Prof Bodo Grimbacher

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Personal Profile

Name: Bodo Grimbacher Email: b.grimbacher@ucl.ac.uk
Title: Prof Tel: 0044 20 7794 0500
Department: Div of Infection & Immunity Fax:
Position: Professor of Clinical Immunology Address: Pond Street, London, London, NW3 2QG
Research Domain: Infection, Immunology & Inflammation, Personalised Medicine Web Page: Personal Web Page

Profile

Research Description

Primary immunodeficiencies due to monogenetic defects in humans are an experiment of nature. Their investigation enables physicians and researchers to dissect the immune system and evaluate the respective components in human immunology. The identification of new disease genes leads to improved diagnosis and disease management, and ultimately, by illuminating the pathophysiology, to the development of new therapeutic strategies. Currently my research at the Royal Free Hospital & University College London has five focuses:
1. Genetic causes of hypogammaglobulinemia (CVID)
2. The clinical phenotype of antibody deficiency syndromes
3. The genetic cause of the hyper-IgE recurrent infection syndrome (HIES)
4. New disease genes in severe congenital neutropenia (SCN)
5. The genetic cause of chronic mucocutaneous candidiasis (CMC)
6. The molecular pathology of chronic inflammatory bowel disease



Research Activities

The cause and pathophysiology of primary immunodeficiency

Education Description

1. Immunology of the lung, Module in the Pathology week for 3rd yr Medical students
2. Immunology of the gut, Module in the Pathology week for 3rd yr Medical students
3. Genetic causes of antibody deficiencies, Seminar for the Immunology Elective
4. The hyper IgE syndrome, Seminar for the Immunology Elective

UCL Collaborators

External Collaborators

Publications

    2014

    • Frans G, Moens L, Schaballie H, Van Eyck L, Borgers H, Wuyts M, Dillaerts D, Vermeulen E, Dooley J, Grimbacher B, Cant A, Declerck D, Peumans M, Renard M, De Boeck K, Hoffman I, François I, Liston A, Claessens F, Bossuyt X, Meyts I (2014). Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding.. J Allergy Clin Immunol, , - . doi:10.1016/j.jaci.2014.05.044
    • Engelhardt KR, Grimbacher B (2014). IL-10 in Humans: Lessons from the Gut, IL-10/IL-10 Receptor Deficiencies, and IL-10 Polymorphisms.. Curr Top Microbiol Immunol, 380, 1 - 18. doi:10.1007/978-3-662-43492-5_1
    • Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani LH, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Soerqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Koelsch U, Nadifi S, Nilsson M, Bejaoui M, Schaeffer AA, Smith CIE, Dell A, Barbouche M-R, Grimbacher B (2014). Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 133(5), 1410 - U681. doi:10.1016/j.jaci.2014.02.025
    • Makatsori M, Kiani-Alikhan S, Manson A, Verma N, Leandro M, Gurugama P, Longhurst H, Grigoriadou S, Buckland M, Kanfer E, Hanson S, Ibrahim M, Grimbacher B, Chee R, Seneviratne S (2014). Hypogammaglobulinaemia after rituximab treatment- its incidence and outcome.. QJM, , - . doi:10.1093/qjmed/hcu094
    • Sic H, Kraus H, Madl J, Flittner KA, von Münchow AL, Pieper K, Rizzi M, Kienzler AK, Ayata K, Rauer S, Kleuser B, Salzer U, Burger M, Zirlik K, Lougaris V, Plebani A, Römer W, Loeffler C, Scaramuzza S, Villa A, Noguchi E, Grimbacher B, Eibel H (2014). Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis.. J Allergy Clin Immunol, , - . doi:10.1016/j.jaci.2014.01.037
    • Gathmann B, Mahlaoui N, for CEREDIH , Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers TW, Dutch WID , van Beem RT, Guzman D, Workman S, Soler-Palacín P, De Gracia J, Witte T, Schmidt RE, Litzman J, Hlavackova E, Thon V, Borte M, Borte S, Kumararatne D, Feighery C, Longhurst H, Helbert M, Szaflarska A, Sediva A, Belohradsky BH, Jones A, Baumann U, Meyts I, Kutukculer N, Wågström P, Galal NM, Roesler J, Farmaki E, Zinovieva N, Ciznar P, Papadopoulou-Alataki E, Bienemann K, Velbri S, Panahloo Z, Grimbacher B, for the European Society for Immunodeficiencies Registry Working Party (2014). Clinical picture and treatment of 2212 patients with common variable immunodeficiency.. J Allergy Clin Immunol, , - . doi:10.1016/j.jaci.2013.12.1077
    • Gao Y, Workman S, Gadola S, Elliott T, Grimbacher B, Williams AP (2014). Common variable immunodeficiency is associated with a functional deficiency of invariant natural killer T cells.. J Allergy Clin Immunol, , - . doi:10.1016/j.jaci.2013.10.059
    • Frede N, Glocker EO, Wanders J, Engelhardt KR, Kreisel W, Ruemmele FM, Grimbacher B (2014). Evidence for non-neutralizing autoantibodies against IL-10 signalling components in patients with inflammatory bowel disease.. BMC Immunol, 15(1), 10 - . doi:10.1186/1471-2172-15-10
    • Routes JM, Costa-Carvalho BT, Grimbacher B, Paris K, Ochs HD, Ito D, Xiong Y, Li-McLeod J, Schiff RI (2014). Assessment Of The Quality Of Life and Health Resource Utilization Burden Among Patients With Primary Immunodeficiency Disorder (PIDD) Prior To Treatment.
    • Pieper K, Rizzi M, Speletas M, Smulski CR, Sic H, Kraus H, Salzer U, Fiala GJ, Schamel WW, Lougaris V, Plebani A, Hammarstrom L, Recher M, Germenis AE, Grimbacher B, Warnatz K, Rolink AG, Schneider P, Notarangelo LD, Eibel H (2014). A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency.. J Allergy Clin Immunol, , - . doi:10.1016/j.jaci.2013.11.021
    • Hurst JR, Workman S, Garcha DS, Seneviratne SL, Haddock JA, Grimbacher B (2014). Activity, Severity and Impact of Respiratory Disease in Primary Antibody Deficiency Syndromes. JOURNAL OF CLINICAL IMMUNOLOGY, 34(1), 68 - 75. doi:10.1007/s10875-013-9942-x

    2013

    • Sassi A, Lazaroski S, Wu G, Haslam SM, Mellouli F, Patiroglu T, Jouhadi Z, Khadir K, Pfeifer D, Jakob T, Khemiri M, Ben-Mustapha I, Asplund C, Gustafsson M, Lundin K, Falk-Sorqvist E, Moens L, Unal E, Ozdemir MA, Gungor HE, Engelhardt K, Dziadzio M, Stauss H, Fleckenstein B, Fliegauf M, Meier R, Ben-Khemis L, Kraus H, Nadifi S, Eibel H, Nilsson M, Bejaoui M, Schaeffer A, Smith E, Dell A, Barbouche M-R, Grimbacher B (2013). Hypomorphic, Homozygous Mutations In Phosphoglucomutase-3 Impair Immunity And Increase Serum IgE Levels.
    • Luksch H, Romanowski MJ, Chara O, Tüngler V, Caffarena ER, Heymann MC, Lohse P, Aksentijevich I, Remmers EF, Flecks S, Quoos N, Gramatté J, Petzold C, Hofmann SR, Winkler S, Pessler F, Kallinich T, Ganser G, Nimtz-Talaska A, Baumann U, Runde V, Grimbacher B, Birmelin J, Gahr M, Roesler J, Rösen-Wolff A (2013). Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.. Hum Mutat, 34(1), 122 - 131. doi:10.1002/humu.22169
    • Lanternier F, Pathan S, Vincent QB, Liu L, Cypowyj S, Prando C, Migaud M, Taibi L, Ammar-Khodja A, Stambouli OB, Guellil B, Jacobs F, Goffard JC, Schepers K, Del Marmol V, Boussofara L, Denguezli M, Larif M, Bachelez H, Michel L, Lefranc G, Hay R, Jouvion G, Chretien F, Fraitag S, Bougnoux ME, Boudia M, Abel L, Lortholary O, Casanova JL, Picard C, Grimbacher B, Puel A (2013). Deep Dermatophytosis and Inherited CARD9 Deficiency.. N Engl J Med, , - . doi:10.1056/NEJMoa1208487
    • Hurst JR, Workman S, Garcha DS, Seneviratne SL, Haddock JA, Grimbacher B (2013). Activity, Severity and Impact of Respiratory Disease in Primary Antibody Deficiency Syndromes.. J Clin Immunol, , - . doi:10.1007/s10875-013-9942-x
    • Romberg N, Chamberlain N, Saadoun D, Gentile M, Kinnunen T, Ng YS, Virdee M, Menard L, Cantaert T, Morbach H, Rachid R, Martinez-Pomar N, Matamoros N, Geha R, Grimbacher B, Cerutti A, Cunningham-Rundles C, Meffre E (2013). CVID-associated TACI mutations affect autoreactive B cell selection and activation.. J Clin Invest, , - . doi:10.1172/JCI69854
    • Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, Rensing-Ehl A, Vraetz T, Grimbacher B, Salzer U, Fuchs I, Ufheil H, Belohradsky BH, Hassan A, Cale CM, Elawad M, Strahm B, Schibli S, Lauten M, Kohl M, Meerpohl JJ, Rodeck B, Kolb R, Eberl W, Soerensen J, von Bernuth H, Lorenz M, Schwarz K, Zur Stadt U, Ehl S (2013). X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.. Clin Immunol, 149(1), 133 - 141. doi:10.1016/j.clim.2013.07.004
    • Engelhardt KR, Grimbacher B, Niehues T (2013). [Primary immunodeficiency].. Z Rheumatol, 72(7), 643 - 652. doi:10.1007/s00393-013-1161-6
    • Edgar JD, Buckland M, Guzman D, Conlon NP, Knerr V, Bangs C, Reiser V, Panahloo Z, Workman S, Slatter M, Gennery AR, Davies EG, Allwood Z, Arkwright PD, Helbert M, Longhurst HJ, Grigoriadou S, Devlin LA, Huissoon A, Krishna MT, Hackett S, Kumararatne DS, Condliffe AM, Baxendale H, Henderson K, Bethune C, Symons C, Wood P, Ford K, Patel S, Jain R, Jolles S, El-Shanawany T, Alachkar H, Herwadkar A, Sargur R, Shrimpton A, Hayman G, Abuzakouk M, Spickett G, Darroch CJ, Paulus S, Marshall SE, McDermott EM, Heath PT, Herriot R, Noorani S, Turner M, Khan S, Grimbacher B (2013). The United Kingdom Primary Immune Deficiency (UKPID) Registry: Report of the first 4 years' activity 2008-2012.. Clin Exp Immunol, , - . doi:10.1111/cei.12172
    • Afzali B, Mitchell PJ, Edozie FC, Povoleri GA, Dowson SE, Demandt L, Walter G, Canavan JB, Scotta C, Menon B, Chana PS, Khamri W, Kordasti SY, Heck S, Grimbacher B, Tree T, Cope AP, Taams LS, Lechler RI, John S, Lombardi G (2013). CD161 expression characterizes a subpopulation of human regulatory T cells that produces IL-17 in a STAT3-dependent manner.. Eur J Immunol, 43(8), 2043 - 2054. doi:10.1002/eji.201243296
    • Verma N, Thaventhiran A, Gathmann B, ESID Registry Working Party , Thaventhiran J, Grimbacher B (2013). Therapeutic management of primary immunodeficiency in older patients.. Drugs Aging, 30(7), 503 - 512. doi:10.1007/s40266-013-0079-7
    • Scheuerman O, Hoffer V, Cohen AH, Woellner C, Grimbacher B, Garty BZ (2013). Reduced bone density in patients with autosomal dominant hyper-IgE syndrome.. J Clin Immunol, 33(5), 903 - 908. doi:10.1007/s10875-013-9895-0
    • Gathmann B, Goldacker S, Klima M, Belohradsky BH, Notheis G, Ehl S, Ritterbusch H, Baumann U, Meyer-Bahlburg A, Witte T, Schmidt R, Borte M, Borte S, Linde R, Schubert R, Bienemann K, Laws HJ, Dueckers G, Roesler J, Rothoeft T, Krüger R, Scharbatke EC, Masjosthusmann K, Wasmuth JC, Moser O, Kaiser P, Groß-Wieltsch U, Classen CF, Horneff G, Reiser V, Binder N, El-Helou SM, Klein C, Grimbacher B, Kindle G (2013). The German national registry for primary immunodeficiencies (PID).. Clin Exp Immunol, 173(2), 372 - 380. doi:10.1111/cei.12105
    • Al Rushood M, McCusker C, Mazer B, Alizadehfar R, Grimbacher B, Depner M, Ben-Shoshan M (2013). Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3.. J Pediatr, 163(1), 277 - 279. doi:10.1016/j.jpeds.2013.02.040
    • Wong GK, Goldacker S, Winterhalter C, Grimbacher B, Chapel H, Lucas M, Alecsandru D, McEwen D, Quinti I, Martini H, Milito C, Schmidt RE, Ernst D, Espanol T, Vidaller A, Carbone J, Fernandez-Cruz E, Lougaris V, Plebani A, Kutukculer N, Gonzalez-Granado LI, Contreras R, Kiani-Alikhan S, Ibrahim MA, Litzman J, Jones A, Gaspar HB, Hammarstrom L, Baumann U, Warnatz K, Huissoon AP, Clinical Working Party of the European Society for Immunodeficiencies (ESID) (2013). Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): a survey of 45 patients.. Clin Exp Immunol, 172(1), 63 - 72. doi:10.1111/cei.12039
    • Pieper K, Grimbacher B, Eibel H (2013). B-cell biology and development.. J Allergy Clin Immunol, 131(4), 959 - 971. doi:10.1016/j.jaci.2013.01.046
    • Stepensky P, Keller B, Buchta M, Kienzler AK, Elpeleg O, Somech R, Cohen S, Shachar I, Miosge LA, Schlesier M, Fuchs I, Enders A, Eibel H, Grimbacher B, Warnatz K (2013). Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.. J Allergy Clin Immunol, 131(2), 477 - 85.e1. doi:10.1016/j.jaci.2012.11.050
    • Engelhardt KR, Shah N, Faizura-Yeop I, Kocacik Uygun DF, Frede N, Muise AM, Shteyer E, Filiz S, Chee R, Elawad M, Hartmann B, Arkwright PD, Dvorak C, Klein C, Puck JM, Grimbacher B, Glocker EO (2013). Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.. J Allergy Clin Immunol, 131(3), 825 - 830. doi:10.1016/j.jaci.2012.09.025
    • Seneviratne S, Verma N, Hurst J, Dziadzio M, Rodriguez-Justo M, Paterson J, Ambrose L, Workman S, Haddock J, Chee R, Clarke I, Griffiths P, Gamez L, Cooper N, Webster D, Burns S, Grimbacher B (2013). LRBA deficiency, CMV disease, Lymphocytic Interstitial Pneumonitis (LIP) and early onset autoimmunity.

    2012

    • Engelhardt K, Gertz E, Keles S, Schaeffer A, Ceja R, Sassi A, Graham L, Massaad M, Mellouli F, Benmustapha I, Khemiri M, Kilic S, Etzioni A, Freeman A, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal O, Yeganeh M, Niehues T, Siepermann K, Weinspach S, Unal E, Patiroglu T, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery A, Cant A, Jones A, Gaspar H, Pietrogrande M, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche M, Geha R, Chatila T, Grimbacher B (2012). DOCK8 deficiency and diagnostic guidelines for hyper-IgE syndromes.
    • Thiel J, Kimmig L, Salzer U, Grudzien M, Lebrecht D, Hagena T, Draeger R, Voelxen N, Bergbreiter A, Jennings S, Gutenberger S, Aichem A, Illges H, Hannan JP, Kienzler AK, Rizzi M, Eibel H, Peter HH, Warnatz K, Grimbacher B, Rump JA, Schlesier M (2012). Genetic CD21 deficiency is associated with hypogammaglobulinemia.. J Allergy Clin Immunol, 129(3), 801 - 810.e6. doi:10.1016/j.jaci.2011.09.027
    • Heaps AG, Selwood C, Moody M, Mari A, Palazzo P, Sassi A, Sawalle-Belohradsky J, Belohradsky B, Wollenberg A, Schimke L, Renner E, Woellner C, Grimbacher B, El-Shanawany T, Jolles S, Williams P (2012). ANALYSIS OF THE SERUM IGE REPERTOIRE IN HYPER IGE SYNDROME (HIES) PATIENTS USING AN IMMUNO SOLID-PHASE ALLERGEN CHIP (ISAC).
    • Speckmann C, Bondzio I, Lehmberg K, Rensing-Ehl A, Vraetz T, Grimbacher B, Albert M, Belohradsky BH, Hassan A, Strahm B, Schibli S, Lauten M, Meerpohl J, Rodeck B, Cale C, Elawad M, Lorenz M, zur Stadt U, Schwarz K, Ehl S (2012). XIAP DEFICIENCY: PHENOTYPIC DIVERSITY BEYOND HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS.
    • Aydin S, Freeman AF, Sanal O, Al-Mousa H, Matthes-Martin S, Cuellar-Rodriguez J, Hickstein DD, Tavil B, Azik FM, Bittner TC, Bredius RG, Ayvaz D, Kuskonmaz B, Hoenig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans JM, Kuijpers TW, Dueckers G, Al-Herz W, Pai SY, Geha RS, Notheis G, Schwarze CP, Schuster F, Gathmann B, Grimbacher B, Gaspar B, Belohradsky BH, Ochs H, Renner E, Chatila T, Engelhardt KR, Albert MH (2012). MANAGEMENT OF DOCK8 DEFICIENCY BY HEMATOPOIETIC STEM CELL TRANSPLANTATION (HSCT).
    • Metzger M-L, Mueller I, Melkaoui K, Litzman J, Warnatz K, Guzman D, Grimbacher B, Salzer U (2012). LOW FICOLIN-2 LEVELS IN CVID PATIENTS WITH BRONCHIECTASIS.
    • Kracker S, Cuenin C, Schwartzentruber J, Robyr D, Forveille M, Majewski J, Grimbacher B, Kutukuler N, Herceg Z, Antonorakis S, Cavazzana-Calvo M, Jabado N, Fischer A, Durandy A (2012). A ROLE FOR INO80, A CORE PROTEIN OF A CHROMATIN REMODELING COMPLEX, IN CLASS SWITCH RECOMBINATION.
    • Bartsch M, Thiel J, Cunningham-Rundles C, Grimbacher B, Witte T, Goldacker S, Venhoff N, Voll R, Warnatz K (2012). IMMUNOSUPPRESSIVE TREATMENT FOR AUTOIMMUNITY, LYMPHOPROLIFERATION AND GRANULOMATOUS COMPLICATIONS IN PATIENTS WITH CVID.
    • Thaventhiran JE, McGovern N, Dickinson R, Bigley V, Doffinger R, Kumararatne D, Chee R, Seneviratne S, Grimbacher B, Collin M, Morris E (2012). IDENTIFICATION OF GATA-2 MUTATIONS USING A SIMPLE SCREENING PROCEDURE IN PATIENTS WITH PAPILLOMA VIRUS INFECTIONS.
    • Lanternier F, Pathan S, Vincent Q, Liu L, Cypowij S, Prando C, Migaud M, Taibi L, Ammar-Khodja A, Stambouli OB, Guellil B, Jacobs F, Goffard J-C, Shepers K, del Marmol V, Bachelez H, Michel L, Lefranc G, Fraitag S, Bougnoux M-E, Boudia M, Lortholary O, Abel L, Casanova J-L, Picard C, Grimbacher B, Puel A (2012). HUMAN INVASIVE DERMATOPHYTIC DISEASE IS CAUSED BY INBORN ERRORS OF CARD9.
    • Workman S, Webster D, Grimbacher B, Chee R, Wanders J, Symes A, Neal M, Sewell R (2012). COMPARING QOL SCORES FOR PATIENTS WITH IMMUNODEFICIENCIES RECEIVING IV OR SC IMMUNOGLOBULIN THERAPY, AT A SPECIALIST CENTRE OR LOCAL HOSPITAL OR AT HOME.
    • Gamez-Diaz L, Ehl S, Hauch H, Koscielniak E, Feuchtinger T, Speckmann C, Wanders J, Seneviratne S, Orange J, Enders A, Stauss H, Moustchen M, Eibel H, Grimbacher B (2012). NEW DEFICIENCY CAUSING EARLY-ONSET CVID: HOW TO DIAGNOSE LRBA DEFECTS?.
    • Albert M, Aydin S, Su H, Chatila T, Alsum Z, Heinz V, Al-Herz W, Keles S, Picard C, Gathmann B, Hoenig M, Gennery A, Al-Mousa H, Geha RS, Sawalle-Belohradsky J, Notheis G, Schwarze CP, Metin A, Gaspar B, Bienemann K, Schulz A, Thiel J, Dueckers G, Kuijpers TW, van Montfrans JM, Ifversen M, Barlogis V, Hawwari A, Holland SM, Rezaei N, Al Zahrani D, Kilic SS, Genel F, Kostyuchenko L, Kainulainen L, Porras O, Kumar A, Ehl S, Aytekin C, Gonzalez-Granado LI, Abbott J, Kutukculer N, Marodi L, Grimbacher B, Renner ED, Ochs H, Belohradsky BH, Sanal O, Freeman AF, Engelhardt KR, Grp DS (2012). CLINICAL PRESENTATION AND LONG-TERM OUTCOME OF DOCK8 DEFICIENCY - A SURVEY OF 134 PATIENTS.
    • Depner M, van de Veerdonk F, Wanders J, Stauss H, Raabe J, Atkinson TP, Jr SHW, Niehues T, Dueckers G, Puck J, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CMA, Carneiro-Sampaio M, Devlin LA, Edgar JD, Gkrania-Klotsas E, Kumararatne D, Doffinger R, Henderson P, Russell RK, Dyrso T, Seneviratne SL, Matthijs G, Abinun M, Gennery A, Johnson M, van der Meer JWM, Netea MG, Lilic D, Grimbacher B (2012). MUTATION SCREENING IN STAT1, CARD9 AND PKC-DELTA IN PATIENTS WITH CHRONIC MUCOCUTANEOUS CANDIDIASIS.
    • Engelhardt KR, Gertz EM, Keles S, Schaeffer AA, Ceja R, Sassi A, Massaad MJ, Mellouli F, Benmustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal O, Yeganeh M, Niehues T, Siepermann K, Unal E, Patiroglu T, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar HB, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche R, Geha RS, Chatila TA, Grimbacher B (2012). DOCK8 DEFICIENCY AND A DIAGNOSTIC SCORE TO DIFFERENTIATE IT FROM OTHER HYPER-IGE SYNDROMES.
    • Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, Herholz P, Trujillo-Vargas CM, Phadwal K, Simon AK, Moutschen M, Etzioni A, Mory A, Srugo I, Melamed D, Hultenby K, Liu C, Baronio M, Vitali M, Philippet P, Dideberg V, Aghamohammadi A, Rezai N, Enright V, Du L, Salzer U, Eibel H, Pfeifer D, Veelken H, Stauss H, Lougaris V, Plebani A, Gertz EM, Schaeffer AA, Hammarstrom L, Grimbacher B (2012). DELETERIOUS LRBA MUTATIONS IN A NOVEL SYNDROME OF IMMUNE DEFICIENCY AND AUTOIMMUNITY.
    • Spielberger BD, Woellner C, Dueckers G, Sawalle-Belohradsky J, Hagl B, Anslinger K, Bayer B, Siepermann K, Niehues T, Grimbacher B, Belohradsky BH, Renner ED (2012). Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES).. J Allergy Clin Immunol, 130(6), 1426 - 1428. doi:10.1016/j.jaci.2012.07.030
    • Orange JS, Belohradsky BH, Berger M, Borte M, Hagan J, Jolles S, Wasserman RL, Baggish JS, Saunders R, Grimbacher B (2012). Evaluation of correlation between dose and clinical outcomes in subcutaneous immunoglobulin replacement therapy.. Clin Exp Immunol, 169(2), 172 - 181. doi:10.1111/j.1365-2249.2012.04594.x
    • Depner M, Wanders J, Stauss H, Jansson A, Dueckers G, Niehues T, Baumann U, Pedersen AS, Kilic SS, Atkinson TP, Puck JM, Franco JL, Devlin L, Jensen TD, Henderson P, Matthijs G, Ben Shoshan M, McCusker C, Jacob CM, Grimbacher B (2012). Gain-of-function mutations in STAT1: A new molecular cause for patients with chronic mucocutaneous candidiasis. MYCOSES, 55, 319 - 319.
    • Hernandez-Trujillo HS, Chapel H, Lo Re V, Notarangelo LD, Gathmann B, Grimbacher B, Boyle JM, Hernandez-Trujillo VP, Scalchunes C, Boyle ML, Orange JS (2012). Comparison of American and European practices in the management of patients with primary immunodeficiencies.. Clin Exp Immunol, 169(1), 57 - 69. doi:10.1111/j.1365-2249.2012.04588.x
    • Lopez-Herrera G, Tampella G, Pan-Hammarström Q, Herholz P, Trujillo-Vargas CM, Phadwal K, Simon AK, Moutschen M, Etzioni A, Mory A, Srugo I, Melamed D, Hultenby K, Liu C, Baronio M, Vitali M, Philippet P, Dideberg V, Aghamohammadi A, Rezaei N, Enright V, Du L, Salzer U, Eibel H, Pfeifer D, Veelken H, Stauss H, Lougaris V, Plebani A, Gertz EM, Schäffer AA, Hammarström L, Grimbacher B (2012). Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.. Am J Hum Genet, 90(6), 986 - 1001. doi:10.1016/j.ajhg.2012.04.015
    • Albert MH, Aydin S, Matthes-Martin S, Hoenig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Dueckers G, Al-Herz W, Metin A, Pai S, Geha R, Bittner TC, Notheis G, Sawalle-Belohradsky J, Heinz V, Gathmann B, Engelhardt K, Grimbacher B, Renner ED, Chatila T, Belohradsky BH, Ochs HD, Gaspar B (2012). Management of DOCK8 deficiency by haematopoietic stem cell transplantation.
    • Speckmann C, Neumann C, Borte S, la Marca G, Sass JO, Wiech E, Fisch P, Schwarz K, Buchholz B, Schlesier M, Felgentreff K, Grimbacher B, Santisteban I, Bali P, Hershfield MS, Ehl S (2012). Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis.. J Allergy Clin Immunol, 130(4), 991 - 994. doi:10.1016/j.jaci.2012.04.004
    • Albert MH, Aydin S, Alsum Z, Chatila T, Su H, Heinz V, Al-Herz W, Keles S, Picard C, Kilic S, Gathmann B, Hoenig M, Almousa H, Sawalle-Belohradsky J, Gennery A, Geha RS, Renner E, Grimbacher B, Freeman AF, Engelhardt KR (2012). Clinical Presentation, Long-Term Outcome and Therapeutic Management of DOCK8 Deficiency-an International Survey of 125 Patients.
    • Romberg N, Chamberlain N, Saadoun D, Kinnunen T, Ng YS, Martinez-Gallo M, Matamoros N, Rachid R, Geha RS, Grimbacher B, Cunningham-Rundles C, Meffre E (2012). The Impact of TACI Mutations on Health and CVID.
    • Lopez-Herrera G, Tampella G, Baronio M, Vitali M, Lougaris V, Plebani A, Pan-Hammarstroem Q, Hammarstroem L, Du L, Hultenby K, Trujillo-Vargas CM, Phadwal K, Simon AK, Moutschen M, Etzioni A, Srugo AMI, Melamed D, Liu C, Philippet P, Dideberg V, Aghamohammadi A, Rezai N, Enright V, Stauss H, Herholz P, Salzer U, Eibel H, Pfeifer D, Velkeen H, Gertz EM, Schaeffer AA, Grimbacher B (2012). Mutations in LRBA are Associated with a Syndrome of Immune Deficiency and Autoimmunity.
    • Engelhardt KR, Gertz EM, Keles S, Schaeffer AA, Ceja R, Sassi A, Graham L, Massaad MJ, Bejaoui M, Barbouche M-R, Geha RS, Chatila TA, Grimbacher B, Phys 3R (2012). DOCK8 Deficiency and Diagnostic Guidelines for Hyper-IgE Syndromes.
    • Kotlarz D, Beier R, Murugan D, Diestelhorst J, Jensen O, Boztug K, Pfeifer D, Kreipe H, Pfister ED, Baumann U, Puchalka J, Bohne J, Egritas O, Dalgic B, Kolho KL, Sauerbrey A, Buderus S, Güngör T, Enninger A, Koda YK, Guariso G, Weiss B, Corbacioglu S, Socha P, Uslu N, Metin A, Wahbeh GT, Husain K, Ramadan D, Al-Herz W, Grimbacher B, Sauer M, Sykora KW, Koletzko S, Klein C (2012). Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.. Gastroenterology, 143(2), 347 - 355. doi:10.1053/j.gastro.2012.04.045
    • Al-Herz W, Ragupathy R, Massaad MJ, Al-Attiyah R, Nanda A, Engelhardt KR, Grimbacher B, Notarangelo L, Chatila T, Geha RS (2012). Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.. Clin Immunol, 143(3), 266 - 272. doi:10.1016/j.clim.2012.03.002
    • Palendira U, Low C, Bell AI, Ma CS, Abbott RJ, Phan TG, Riminton DS, Choo S, Smart JM, Lougaris V, Giliani S, Buckley RH, Grimbacher B, Alvaro F, Klion AD, Nichols KE, Adelstein S, Rickinson AB, Tangye SG (2012). Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.. J Exp Med, 209(5), 913 - 924. doi:10.1084/jem.20112391
    • Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schäffer AA, Gertz EM, Schambach A, Kreipe HH, Pfeifer D, Engelhardt KR, Rezaei N, Grimbacher B, Lohrmann S, Sherkat R, Klein C (2012). The phenotype of human STK4 deficiency.. Blood, 119(15), 3450 - 3457. doi:10.1182/blood-2011-09-378158
    • Engelhardt KR, Grimbacher B (2012). Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects.. J Allergy Clin Immunol, 129(2), 294 - 305. doi:10.1016/j.jaci.2011.12.966
    • Kreuzaler M, Rauch M, Salzer U, Birmelin J, Rizzi M, Grimbacher B, Plebani A, Lougaris V, Quinti I, Thon V, Litzman J, Schlesier M, Warnatz K, Thiel J, Rolink AG, Eibel H (2012). Soluble BAFF levels inversely correlate with peripheral B cell numbers and the expression of BAFF receptors.. J Immunol, 188(1), 497 - 503. doi:10.4049/jimmunol.1102321
    • Glocker E, Grimbacher B (2012). Inflammatory bowel disease: is it a primary immunodeficiency?. Cell Mol Life Sci, 69(1), 41 - 48. doi:10.1007/s00018-011-0837-9
    • Yong PF, Freeman AF, Engelhardt KR, Holland S, Puck JM, Grimbacher B (2012). An update on the hyper-IgE syndromes.. Arthritis Res Ther, 14(6), 228 - . doi:10.1186/ar4069

    2011

    • Abdollahpour H, Appaswamy G, Beier R, Schaeffer AA, Gertz EM, Kreipe HH, Pfeifer D, Grimbacher B, Lohrmann S, Sherkat R, Klein C (2011). The Phenotype of Human STK4 Deficiency.
    • Chua I, Lagos M, CHARALAMBOUS B, Workman S, Chee R, Grimbacher B (2011). Pathogen-specific IgG antibody levels in immunodeficient patients receiving immunoglobulin replacement do not provide additional benefit to therapeutic management over total serum IgG. Journal of Allergy and Clinical Immunology, , - .
    • Glocker EO, Kotlarz D, Klein C, Shah N, Grimbacher B (2011). IL-10 and IL-10 receptor defects in humans.. Ann N Y Acad Sci, 1246, 102 - 107. doi:10.1111/j.1749-6632.2011.06339.x
    • Gathmann B, Mahlaoui N, Warnatz K, Kuijpers TW, Kilic SS, Thon V, Arkwright PD, Kumararatne D, Exley A, Borte M, Jones A, Belohradsky BH, Baumann U, Kutukculer N, Witte T, Feighery C, Wagstrom P, Longhurst H, Linde R, Ritterbusch H, Farmaki E, Sediva A, Papadopoulou-Alataki E, Panahloo Z, Grimbacher B (2011). Differences in Ig Replacement Therapy Dosing in Patients with Common Variable Immunodeficiency in Europe: Results from the ESID Database.
    • Kindle G, Warnatz K, Paschenko O, Kumararatne D, Kilic SS, Thon V, Witte T, Helbert M, Kuijpers TW, Exley A, Mahlaoui N, Notheis G, Longhurst H, Baumann U, Jones A, Kutukculer N, Borte M, Wagstrom P, Feighery C, Szaflarska A, Ritterbusch H, Reda S, Kononova T, Panahloo Z, Grimbacher B (2011). Differences in Clinical Outcome in Patients with Common Variable Immunodeficiency Treated with Ig Replacement Therapy: Results from the ESID Database.
    • Yong PF, Thaventhiran JE, Grimbacher B (2011). "A rose is a rose is a rose," but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011?. Adv Immunol, 111, 47 - 107. doi:10.1016/B978-0-12-385991-4.00002-7
    • Rizzi M, Neumann C, Fielding AK, Marks R, Goldacker S, Thaventhiran J, Tarzi MD, Schlesier M, Salzer U, Eibel H, Warnatz K, Finke J, Grimbacher B, Peter HH (2011). Outcome of allogeneic stem cell transplantation in adults with common variable immunodeficiency.. J Allergy Clin Immunol, 128(6), 1371 - 1374.e2. doi:10.1016/j.jaci.2011.07.055
    • Beitzke M, Enzinger C, Windpassinger C, Pfeifer D, Fazekas F, Woellner C, Grimbacher B, Kroisel PM (2011). Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a hyper-IgE and a Dubowitz-like syndrome.. J Neurol Sci, 309(1-2), 12 - 15. doi:10.1016/j.jns.2011.07.045
    • Misbah S, Kuijpers T, van der Heijden J, Grimbacher B, Guzman D, Orange J (2011). Bringing immunoglobulin knowledge up to date: how should we treat today?. Clin Exp Immunol, 166(1), 16 - 25. doi:10.1111/j.1365-2249.2011.04443.x
    • Jolles S, Bernatowska E, de Gracia J, Borte M, Cristea V, Peter HH, Belohradsky BH, Wahn V, Neufang-Hüber J, Zenker O, Grimbacher B (2011). Efficacy and safety of Hizentra(®) in patients with primary immunodeficiency after a dose-equivalent switch from intravenous or subcutaneous replacement therapy.. Clin Immunol, 141(1), 90 - 102. doi:10.1016/j.clim.2011.06.002
    • Borte M, Pac M, Serban M, Gonzalez-Quevedo T, Grimbacher B, Jolles S, Zenker O, Neufang-Hueber J, Belohradsky B (2011). Efficacy and safety of hizentra®, a new 20% immunoglobulin preparation for subcutaneous administration, in pediatric patients with primary immunodeficiency.. J Clin Immunol, 31(5), 752 - 761. doi:10.1007/s10875-011-9557-z
    • Glocker EO, Grimbacher B (2011). Mucosal antifungal defence: IL-17 signalling takes centre stage.. Immunol Cell Biol, 89(8), 823 - 825. doi:10.1038/icb.2011.39
    • Marks R, Rizzi M, Neumann C, Fielding A, Goldacker S, Salzer U, Eibel H, Warnatz K, Grimbacher B, Finke J, Peter H (2011). Allogeneic stem cell transplantation in patients with common variable immunodeficiency.
    • Martini H, Enright V, Perro M, Workman S, Birmelin J, Giorda E, Quinti I, Lougaris V, Baronio M, Warnatz K, Grimbacher B (2011). Importance of B cell co-stimulation in CD4(+) T cell differentiation: X-linked agammaglobulinaemia, a human model.. Clin Exp Immunol, 164(3), 381 - 387. doi:10.1111/j.1365-2249.2011.04377.x
    • Khan S, Grimbacher B, Boecking C, Chee R, Allgar V, Holding S, Wong G, Huissoon A, Herriot R, Doré P, Sewell W (2011). Serum trough IgG level and annual intravenous immunoglobulin dose are not related to body size in patients on regular replacement therapy.. Drug Metab Lett, 5(2), 132 - 136.
    • Chitkara R, Batchelor H, Sapsford RJ, Workman S, Patel ARC, Mackay AJ, Grimbacher B, Hurst JR (2011). AIRWAY AND SYSTEMIC INFLAMMATION IN STABLE AND EXACERBATED BRONCHIECTASIS: A PILOT STUDY. doi:10.1136/thoraxjnl-2011-201054c.246

    2010

    • Glocker EO, Schaffer AA, Perro M, Allroth A, Sykora KW, Sauer M, Kreipe H, Nustede R, Woellner C, Baumann U, Salzer U, Segal AW, Klein C, Grimbacher B (2010). Severe early onset ileo-colitis can be caused by mutations in IL10RB and successfully treated by allogeneic hematopoietic stem cell transplantation.
    • Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutuculer N, Camcioglu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ERB, Grimbacher B, Chatila TA (2010). Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome (vol 124, pg 1289, 2009). J ALLERGY CLIN IMMUN, 125(3), 743 - 743.
    • Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitańska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery AR, Abinun M, Breborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sánchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM, Grimbacher B (2010). Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.. J Allergy Clin Immunol, 125(2), 424 - 432.e8. doi:10.1016/j.jaci.2009.10.059
    • Garty BZ, Ben-Baruch A, Rolinsky A, Woellner C, Grimbacher B, Marcus N (2010). Pneumocystis jirovecii pneumonia in a baby with hyper-IgE syndrome.. Eur J Pediatr, 169(1), 35 - 37. doi:10.1007/s00431-009-0973-5
    • Beier R, Kotlarz D, Boztug K, Glocker E, Pfister ED, Diestelhorst J, Murugan D, Baumann U, Koletzko S, Sauerbrey A, Bruderus S, Grimbacher B, Sauer MG, Sykora KW, Klein C (2010). Successful Allogeneic Hematopoietic Stem Cell Transplantation for Severe Inflammatory Bowel Disease-IL10 Receptor Deficiency May Serve as a Novel Therapeutic Paradigm.
    • Gao Y, Workman S, Gadola S, Elliott T, Grimbacher B, Williams AP (2010). Common variable immunodeficiency (CVID) is associated with quantitative and qualitative deficiencies of iNKT cells.
    • Romberg N, Saadoun D, Rachid R, Geha R, Grimbacher B, Cunningham-Rundles C, Meffre E (2010). Transmembrane Activator and Calcium-modulator and Cyclophilin Ligand Interactor (TACI) Expression is Essential for Human B-cell Tolerance.
    • Glocker EO, Frede N, Perro M, Sebire N, Elawad M, Shah N, Grimbacher B (2010). Infant colitis–it’s in the genes. The Lancet, 376, 1272 - 1272.
    • Glocker E, Grimbacher B (2010). Chronic mucocutaneous candidiasis and congenital susceptibility to Candida.. Curr Opin Allergy Clin Immunol, 10(6), 542 - 550. doi:10.1097/ACI.0b013e32833fd74f
    • Quevedo TG, Mannhardt-Laakmann W, Bernatowska E, Serban M, Jolles S, de Gracia J, Grimbacher B, Wang E, Borte M (2010). Health-Related Quality of Life of Patients with Primary Immunodeficiency Switching from Intravenous IgG to a New 20% Subcutaneous IgG. doi:10.1016/j.clim.2010.03.261
    • Romberg N, Soadoun D, Rachid R, Geha R, Grimbacher B, Cunningham-Rundles C, Meffre E (2010). Transmembrane Activator and Calcium-Modulator and Cyclophilin Ligand Interactor (TACI) Expression is Essential for Human B-cell Tolerance. doi:10.1016/j.clim.2010.03.053
    • Romberg N, Saadoun D, Rachid R, Geha R, Matamoros N, Grimbacher B, Charlotte C, Meffre E (2010). Transmembrane Activator and Calcium-Modulator and Cyclophilin Ligand Interactor (TACI) Expression Is Essential for Human B-Cell Tolerance.
    • He B, Santamaria R, Xu W, Cols M, Chen K, Puga I, Shan M, Xiong H, Bussel JB, Chiu A, Puel A, Reichenbach J, Marodi L, Döffinger R, Vasconcelos J, Issekutz A, Krause J, Davies G, Li X, Grimbacher B, Plebani A, Meffre E, Picard C, Cunningham-Rundles C, Casanova JL, Cerutti A (2010). The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88.. Nat Immunol, 11(9), 836 - 845. doi:10.1038/ni.1914
    • Hoffmann F, Grimbacher B, Thiel J, Peter HH, Belohradsky BH, Vivaglobin Study Grp (2010). HOME-BASED SUBCUTANEOUS IMMUNOGLOBULIN G REPLACEMENT THERAPY UNDER REAL-LIFE CONDITIONS IN CHILDREN AND ADULTS WITH ANTIBODY DEFICIENCY. EUR J MED RES, 15(6), 238 - 245.
    • Glocker EO, Hennigs A, Nabavi M, Schaffer AA, Woellner C, Salzer U, Pfeifer D, Veelken H, Warnatz K, Tahami F, Jamal S, Manguiat A, Rezaei N, Amirzargar AA, Plebani A, Hannesschlager N, Gross O, Ruland J, Grimbacher B (2010). Susceptibility to fungal infections due to a homozygous mutation in CARD9.
    • Woellner C, Gertz ME, Schaffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitanska-Pliszka E, Yeganch M, Moin M, Espanol T, Ehl S, Gennery AR, Abinun M, Breborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sanchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Batimann U, Bacchetta R, Hsu AP, Davis JN, Hammarstrom L, Davies GE, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Marodi L, Cant AJ, Freeman AF, Puck JM, Holland SM, Grimbacher B (2010). Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE Syndrome.
    • Heaps AG, El-Shanawany T, Selwood C, Moody M, Mari A, Palazzo P, Woellner C, Grimbacher B, Williams PE, Jolles S (2010). Analysis of the serum IgE repertoire in hyper IgE syndrome (HIGE) patients using an immuno solid-phase allergen chip (ISAC).
    • Lopez-Herrera G, Martini H, Birmelin J, Workman S, Schaffer AA, Pfeifer D, Gertz EM, van der Meer JWM, Grimbacher B (2010). Further genetic linkage analysis in autosomal dominant common variable immunodeficiency.

    2009

    • Boztug K, Kotlarz D, Glocker E, Gertz ME, Schaffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hatscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal A, Sauerbrey A, Buderus S, Snapper S, Grimbacher B, Klein C (2009). Severe Early-Onset Inflammatory Bowel Disease Caused by IL10 Receptor Deficiency Can Be Cured by Allogeneic Hematopoietic Stem Cell Transplantation.
    • Wjst M, Lichtner P, Meitinger T, Grimbacher B (2009). STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families.. Eur J Hum Genet, 17(3), 352 - 356. doi:10.1038/ejhg.2008.169
    • Lopez-Herrera G, Salzer U, Eibel H, Grimbacher B (2009). In vitro induction of class switch recombination to IgG1 is favored by stimulation via BCR, CD40, TLR9 and BAFF. doi:10.1016/j.cyto.2009.07.462
    • Afzali B, Mitchell PJ, Rani A, Khamri W, Kordasti SY, Bamford KB, Grimbacher B, John S, Lechler RI, Lombardi G (2009). Subversion of human CD4(+)CD25(+) regulatory T cells to IL-17-producing T cells by an inflammatory milieu. doi:10.1016/j.cyto.2009.07.060
    • Kienzler AK, Salzer U, Warnatz K, Grimbacher B, Rolink A, Pan-Hammarstrom Q, Hammarstrom L, Peter HH, Eibel H (2009). Human BAFF-R Deficiency is Associated with Primary Antibody Deficiency Syndrome. doi:10.1016/j.clim.2009.03.364
    • Thiel J, Kimmig L, Salzer U, Voelxen N, Eibel H, Peter HH, Grimbacher B, Rump JA, Schlesier M (2009). The Clinical and Immunological Phenotype of Human CD21 Deficiency. doi:10.1016/j.clim.2009.03.164
    • Afzali B, Mitchell P, Khamri W, Kordasti S, Bamford K, Grimbacher B, John S, Lechler R, Lomabardi G (2009). Subversion of Human CD4+CD25+Regulatory T Cells to IL-17-Producing T Cells by Pathogen-induced Inflammatory Milieu. doi:10.1016/j.clim.2009.03.142
    • Afzali B, Mitchell P, Khamri W, Kordasti S, Bamford K, Grimbacher B, John S, Lechler R, Lomabardi G (2009). Subversion of Human CD4+CD25+Regulatory T Cells to IL-17-Producing T Cells by Pathogen-induced Inflammatory Milieu. doi:10.1016/j.clim.2009.03.010
    • Gennery A, Slatter M, Barge D, Woellner C, Grimbacher B, Jolles S, Harvey H, Flood T, Cant A, Abinun M (2009). Haematopoietic stem cell transplantation for STAT3 deficiency.
    • Grimbacher B (2009). Update in Epidemiology of Primary immunodeficiencies in Europe. REV MED INTERNE, 30, COVER4 - COVER4.
    • Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutukculer N, Camcioğlu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ER, Grimbacher B, Chatila TA (2009). Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.. J Allergy Clin Immunol, 124(6), 1289 - 302.e4. doi:10.1016/j.jaci.2009.10.038
    • Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hätscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C (2009). Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.. N Engl J Med, 361(21), 2033 - 2045. doi:10.1056/NEJMoa0907206
    • Ballow M, Notarangelo L, Grimbacher B, Cunningham-Rundles C, Stein M, Helbert M, Gathmann B, Kindle G, Knight AK, Ochs HD, Sullivan K, Franco JL (2009). Immunodeficiencies.. Clin Exp Immunol, 158 Suppl 1, 14 - 22. doi:10.1111/j.1365-2249.2009.04023.x
    • Glocker EO, Hennigs A, Nabavi M, Schäffer AA, Woellner C, Salzer U, Pfeifer D, Veelken H, Warnatz K, Tahami F, Jamal S, Manguiat A, Rezaei N, Amirzargar AA, Plebani A, Hannesschläger N, Gross O, Ruland J, Grimbacher B (2009). A homozygous CARD9 mutation in a family with susceptibility to fungal infections.. N Engl J Med, 361(18), 1727 - 1735. doi:10.1056/NEJMoa0810719
    • Warnatz K, Salzer U, Rizzi M, Fischer B, Gutenberger S, Böhm J, Kienzler AK, Pan-Hammarström Q, Hammarström L, Rakhmanov M, Schlesier M, Grimbacher B, Peter HH, Eibel H (2009). B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.. Proc Natl Acad Sci U S A, 106(33), 13945 - 13950. doi:10.1073/pnas.0903543106
    • Gathmann B, Grimbacher B, Beauté J, Dudoit Y, Mahlaoui N, Fischer A, Knerr V, Kindle G, ESID Registry Working Party (2009). The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008.. Clin Exp Immunol, 157 Suppl 1, 3 - 11. doi:10.1111/j.1365-2249.2009.03954.x
    • Broides A, Shubinsky G, Parvari R, Grimbacher B, Somech R, Garty BZ, Levy J (2009). MHC class 2 deficiency and X-linked agammaglobulinaemia in a consanguineous extended family.. Int J Immunogenet, 36(4), 223 - 226. doi:10.1111/j.1744-313X.2009.00847.x
    • Horn J, Manguiat A, Berglund LJ, Knerr V, Tahami F, Grimbacher B, Fulcher DA (2009). Decrease in phenotypic regulatory T cells in subsets of patients with common variable immunodeficiency.. Clin Exp Immunol, 156(3), 446 - 454. doi:10.1111/j.1365-2249.2009.03913.x
    • Yong PF, Salzer U, Grimbacher B (2009). The role of costimulation in antibody deficiencies: ICOS and common variable immunodeficiency.. Immunol Rev, 229(1), 101 - 113. doi:10.1111/j.1600-065X.2009.00764.x
    • Tuettenberg A, Huter E, Hubo M, Horn J, Knop J, Grimbacher B, Kroczek RA, Stoll S, Jonuleit H (2009). The role of ICOS in directing T cell responses: ICOS-dependent induction of T cell anergy by tolerogenic dendritic cells.. J Immunol, 182(6), 3349 - 3356. doi:10.4049/jimmunol.0802733
    • Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C (2009). A syndrome with congenital neutropenia and mutations in G6PC3.. N Engl J Med, 360(1), 32 - 43. doi:10.1056/NEJMoa0805051
    • Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Schäffer AA, Hammarström L, Thrasher AJ, Gaspar HB, Grimbacher B (2009). Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.. Blood, 113(9), 1967 - 1976. doi:10.1182/blood-2008-02-141937
    • Glocker E, Kotlarz D, Boztug K, Gertz E, Schaffer A, Koletzko S, Shah N, Segal A, Snapper S, Grimbacher B, Klein C (2009). Early-onset inflammatory bowel disease caused by loss-of-function mutations in the IL10-receptor genes.

    2008

    • Knerr V, Gathmann B, Eades-Perner AM, Kindle G, Grimbacher B (2008). [The ESID Online Database for primary immunodeficiencies. First analyses with regard to Germany and Europe].. Med Klin (Munich), 103(9), 620 - 627. doi:10.1007/s00063-008-1100-5
    • Speckmann C, Enders A, Woellner C, Thiel D, Rensing-Ehl A, Schlesier M, Rohr J, Jakob T, Oswald E, Kopp MV, Sanal O, Litzman J, Plebani A, Pietrogrande MC, Franco JL, Espanol T, Grimbacher B, Ehl S (2008). Reduced memory B cells in patients with hyper IgE syndrome.. Clin Immunol, 129(3), 448 - 454. doi:10.1016/j.clim.2008.08.002
    • Litzman J, Freiberger T, Grimbacher B, Gathmann B, Salzer U, Pavlík T, Vlcek J, Postránecká V, Trávnícková Z, Thon V (2008). Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency.. Clin Exp Immunol, 153(3), 324 - 330. doi:10.1111/j.1365-2249.2008.03700.x
    • Salzer U, Hagena T, Webster DB, Grimbacher B (2008). Sequence Analysis of BIRC4/XIAP in Male Patients with Common Variable Immunodeficiency.. International archives of allergy and immunology, 147(2), 147 - 151.
    • Chua I, Quinti I, Grimbacher B (2008). Lymphoma in common variable immunodeficiency: interplay between immune dysregulation, infection and genetics.. Current opinion in hematology, 15(4), 368 - 374.
    • Chapel H, Lucas M, Lee M, Bjorkander J, Webster D, Grimbacher B, Fieschi C, Thon V, Abedi MR, Hammarstrom L (2008). Common variable immunodeficiency disorders: division into distinct clinical phenotypes.. Blood, 112(2), 277 - 286.
    • Ma CS, Chew GY, Simpson N, Priyadarshi A, Wong M, Grimbacher B, Fulcher DA, Tangye SG, Cook MC (2008). Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3.. Journal of Experimental Medicine, 205(7), 1551 - 1557.
    • Glocker E, Ehl S, Grimbacher B (2008). Common variable immunodeficiency in children.. Current Opinion in Pediatrics, 19(6), 685 - 692.
    • Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, Ballmaier M, Grimbacher B, Welte K, Klein C (2008). Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.. Blood, 111(10), 4954 - 4957.
    • Salzer U, Neumann C, Thiel J, Woellner C, Pan-Hammarström Q, Lougaris V, Hagena T, Jung J, Birmelin J, Du L, Metin A, Webster DA, Plebani A, Moschese V, Hammarström L, Schäffer AA, Grimbacher B (2008). Screening of functional and positional candidate genes in families with common variable immunodeficiency. BMC Immunology, 9, 3 - . doi:10.1186/1471-2172-9-3
    • Yeganeh M, Henneke P, Rezaei N, Ehl S, Thiel D, Matamoros N, Pietrogrande C, Espanol T, Litzman J, Franco JL, Sanal O, Kilic SS, Breborowicz A, Plebani A, Renner E, Rothenfusser S, Hawn T, R W, C G, B (2008). Toll-like receptor stimulation induces higher TNF-alpha secretion in peripheral blood mononuclear cells from patients with hyper IgE syndrome.. International archives of allergy and immunology, 146(3), 190 - 194.
    • Yong PF, Tarzi M, Chua I, Grimbacher B, Chee R (2008). Common variable immunodeficiency: an update on etiology and management. Immunology and Allergy Clinics of North America, 28(2), 367 - 386. doi:10.1016/j.iac.2008.01.001
    • Kimmig LM, Thiel J, Salzer U, Grudzien M, Hagena T, Drager R, Lebrecht D, Eibel H, Rump JA, Grimbacher B, Peter HH, Schlesier M (2008). Furtger insights into human CD21 deficiency.
    • Grimbacher B, Hennigs A, Nabavi M, Glocker EO, Schaffer A, Woellner C, Salzer U, Pfeifer D, Tahami F, Plebani A, Amirzagar M, Rezaei N (2008). Chronic mucocutaneous candidiasis is associated with a homozygous mutation in CARD9.
    • Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C (2008). A novel clinical syndrome associating severe congenital neutropenia and complex developmental aberrations caused by deficiency of G6PC(3).
    • Pietrucha B, Heropolitanska-Pliszka E, Woellner C, Grimbacher B, Bernatowska E (2008). Autosomal dominant hyper-IgE syndrome clinical and genetic analysis of polish patients.
    • Birmelin J, Salzer U, Grimbacher B, Bussel J (2008). Polymorphisms in TNFRSF13B are not associated with idiopathic thrombocytopenic purpura.
    • Woellner C, Gertz EM, Schaeffer AA, Lagos M, Perro M, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolianska-Pliszka E, Yeganeh M, Espanol T, Ehl S, Gennery AR, Abinun M, Breborowicz A, Niehues T, Kilic SS, Junker A, Turvey S, Plebani A, Sanchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu A, Hammarstrom L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Marodi L, Cant AM, Puck JM, Holland SM, Grimbacher B (2008). Diagnostic criteria for the hyper IgE recurrent infection syndrome/Job's syndrome/STAT3 deficiency.
    • Gathmann B, Knerr V, Grimbacher B, Kindle G (2008). The ESID online database for primary immunodeficiencies: progress and perspectives.
    • Knerr V, Grimbacher B, Guzman D, Webster D, Hughan C, Longhurst H, Gathmann B, Kindle G, Edgar D (2008). The UKPIN registry for primary immunodeficiencies.
    • Broides A, Shubinsky G, Parvari R, Grimbacher B, Somech R, Garty BZ, Levy J (2008). MHC Class 2 deficiency and X Linked agammaglobulinemia in a consanguineous extended family.
    • Manguiat A, McQuaid A, Tahami F, Knerr V, Workman S, Grimbacher B (2008). Assessment of regulatory T cell numbers in common variable immunodeficiency.
    • Toniati P, Savoldi GF, Davies G, Jones A, De Saint BG, Giliani S, Grimbacher B, Vihinen M, Notarangelo LD (2008). Report of the ESID collaborative study on clinical features and molecular analysis in X-LINKED HYPER-IgM syndrome.
    • Chua I, Lagos M, Charalambous BM, Workman S, Tarzi M, Chee R, Grimbacher B (2008). Using pathogen-specific antibody levels to monitor the adequacy of immunoglobulin replacement in antibody deficient patients.
    • Sivasubramaniam U, Tahami F, North J, Xue S, Birmelin J, Workman S, Chua I, Chee R, Grimbacher B (2008). Natural killer cell functions in patients with primary immunodeficiency disease and recurrent viral warts.
    • Lopez-Herrera G, Detkova D, Schaffer AA, Salzer U, Pfeifer D, Gertz M, Hagena T, Kesel A, Srugo I, Etzioni A, Grimbacher B (2008). Genetic linkage in autosomal recessive common variable immunodeficiency.
    • Jamal S, Warnatz K, Tahami F, Grimbacher B (2008). Enumeration of novel T-cell subsets in combined variable immune deficiency (CVID).
    • Engelhardt KR, Woellner C, Schaffer AA, Gertz EM, Hagena T, Salzer U, Pfeifer D, Yeganeh M, Ehl S, Holland SM, Hsu V, Puck JM, Plebani A, Junker A, Niehues T, E'tzioni A, Grimbacher B (2008). Identification of genes mutated in autosomal-recessive hyper-IgE syndrome.
    • Litzman J, Freiberger T, Grimbacher B, Gathmann B, Salzer U, Pavlik T, Vlcek J, Postranecka V, Travnickova Z, Thon V, Lokaj J (2008). The influence of mannose-binding lectin gene polymorphic variants on phenotypic manifestation of common variable immunodeficiency.
    • Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C (2008). A Novel Clinical Syndrome Associating Severe Congenital Neutropenia and Complex Developmental Aberrations Caused by Deficiency of G6PC3.
    • Garces VP, Caragol I, Hernandez M, Detkova D, Oliveros E, Woellner C, Grimbacher B, Soler P, Espanol T (2008). Hyper IgE syndrome.
    • Tuettenberg A, Stoll S, Huter EN, Hubo M, Kubach J, Horn J, Knop J, Grimbacher B, Jonuleit H (2008). Blockade of ICOS-ICOS-ligand interaction prevents tolerance induction by immature dendritic cells.
    • Yong PF, Chee R, Grimbacher B (2008). Hypogammaglobulinaemia.. Immunol Allergy Clin North Am, 28(4), 691 - vii. doi:10.1016/j.iac.2008.06.003
    • Köbberling J, Grimbacher B (2008). [The ESID Online Database for primary immunodeficiencies].. Med Klin (Munich), 103(9), 619 - . doi:10.1007/s00063-008-1107-y

    2007

    • Zhang L, Radigan L, Salzer U, Behrens TW, Grimbacher B, Diaz G, Bussel J, Cunningham-Randles C (2007). Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes. Journal of Allergy and Clinical Immunology, 120(5), 1178 - 1185.
    • Peter HH, Horn J, Salzer U, Birmelin J, Warnatz K, Schlesier M, Grimbacher B (2007). Expression of FoxP3 and CD25 in T cells is altered in ICOS-/- common variable immunodeficiency (CVID) patients. doi:10.1016/j.clim.2007.03.302
    • Salzer U, Birmelin J, Bacchelli C, Witte T, Buchegger-Podbielski U, Buckridge S, Rzepka R, Gaspar HB, Thrasher AJ, Schmidt RE, Melchers I, Grimbacher B (2007). Sequence analysis of TNFRSF13b, encoding TACI in patients with Systemic Lupus Erythematosus. Journal of Clinical Immunology, 27(4), 372 - 377.
    • Neumann C, Grimbacher B (2007). Molecular basis of common variable immunodeficiency. Deutsche Medizinische Wochenschrift, 132(16), 885 - 887.
    • Salzer U, Jennings S, Grimbacher B (2007). To switch or not to switch - the opposing roles of TACI in terminal B cell differentiation. European Journal of Immunology, 37(1), 17 - 20.
    • Pan-Hammarstrom Q, Salzer U, Du L, Bjorkander J, Cunningham-Rundles C, Nelson DL, Bacchelli C, Gaspar HB, Offer S, Behrens TW, Grimbacher B, Hammarstrom L (2007). Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nature Genetics, 39(4), 429 - 430.
    • Eades-Perner AM, Gathmann B, Knerr V, Guzman D, Veit D, Kindle G, Grimbacher BESIDRWP (2007). The European internet-based patient and research database for primary immunodeficiencies: results 2004-06.. Clinical and experimental immunology, 147(2), 306 - 312.
    • Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schäffer AA, Puck JM, Grimbacher B (2007). STAT3 mutations in the hyper-IgE syndrome.. The New England journal of medicine, 357(16), 1608 - 1619.
    • Guzman D, Veit D, Knerr V, Kindle G, Gathmann B, Eades-Perner AM, Grimbacher B (2007). The ESID Online Database network.. Bioinformatics, 23(5), 654 - 655.
    • Pfeifer D, Woellner C, Petersen A, Pietrogrande MC, Franco JL, Yeganeh M, Ehl S, Matamoros N, Sprecher E, Puck JM, Veelken H, Grimbacher B (2007). The hyper IgE syndrome is not caused by a microdeletion syndrome. Immunogenetics, 59(12), 913 - 926.
    • Woellner C, Schaffer AA, Puck JM, Renner ED, Knebel C, Holland SM, Plebani A, Grimbacher B (2007). The hyper IgE syndrome and mutations in TYK2. Immunity, 26(5), 535 - .
    • Knerr V, Grimbacher B (2007). Primary immunodeficiencies registries. Current Opinion in Allergy and Clinical Immunology, 7(6), 475 - 480.
    • Schaffer AA, Salzer U, Hammarstrom L, Grimbacher B (2007). Deconstructing common variable immunodeficiency by genetic analysis. Current Opinion in Genetics and Development, 17(3), 201 - 212.
    • Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schaffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Welte K, Grimbacher B (2007). HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nature Genetics, 39(1), 86 - 92. doi:10.1038/ng1940
    • Glocker E, Ehl S, Grimbacher B (2007). Common immunodeficiency in children. Current Opinion in Pediatrics, 19(6), 685 - 692.
    • Neumann C, Grimbacher B (2007). Abteilung für Rheumatologie und klinische Immunologie, Medizinische Klinik, Universitätsklinikum Freiburg. [Molecular basis of common variable immunodeficiency.]. Deutsche medizinische Wochenschrift (1946), 132(16), 885 - 887.
    • Horn J, Thon V, Bartonkova D, Salzer U, Warnatz K, Schlesier M, Peter HH, Grimbacher B (2007). Anti-IgA antibodies in Common Variable Immunodeficiency (CVID): diagnostic workup and therapeutic strategy. Clinical Immunology, 122(2), 156 - 162.
    • Marks A, Meyerson H, Grimbacher B, Hostoffer RW (2007). Genetic analysis of autosomal dominant Common Variable Immunodeficiency.
    • Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schaffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C (2007). A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nature Medicine, 13(1), 38 - 45. doi:10.1038/nm1528

    2006

    • Salzer U, Grimbacher B (2006). Common variable immunodeficiency: The power of co-stimulation.. Semin Immunol, 18(6), 337 - 346. doi:10.1016/j.smim.2006.07.004
    • Salzer U, Grimbacher B (2006). Monogenetic defects in common variable immunodeficiency: what can we learn about terminal B cell differentiation?. Curr Opin Rheumatol, 18(4), 377 - 382. doi:10.1097/01.bor.0000231906.12172.6e
    • van Zelm MC, Reisli I, van der Burg M, Castaño D, van Noesel CJ, van Tol MJ, Woellner C, Grimbacher B, Patiño PJ, van Dongen JJ, Franco JL (2006). An antibody-deficiency syndrome due to mutations in the CD19 gene.. N Engl J Med, 354(18), 1901 - 1912. doi:10.1056/NEJMoa051568
    • Schäffer AA, Pfannstiel J, Webster AD, Plebani A, Hammarström L, Grimbacher B (2006). Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q.. Hum Genet, 118(6), 725 - 729. doi:10.1007/s00439-005-0101-1
    • van ZMC, Reisli , I , an DB, M , Castaño , D , van N, C JM, van T, M JD, Woellner , C , Grimbacher , B , Patiño , P J, van D, J JM, Franco , J L (2006). Novel antibody deficiency in patients with CD19 gene defects. New England Journal of Medicine, , - .
    • Horn J, Thon V, Bartonkova D, Salzer U, Warnatz K, Schlesier M, Peter HH, Grimbacher B (2006). Anti-IgA antibodies in common variable immunodeficiency (CVID): diagnostic workup and therapeutic strategy.. Clinical Immunology, 122(2), 156 - 162. doi:10.1016/j.clim.2006.10.002
    • Bossaller L, Burger J, Draeger R, Grimbacher B, Knoth R, Plebani A, Durandy A, Baumann U, Schlesier M, Welcher AA, Peter HH, Warnatz K (2006). ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells. The Journal of Immunology, 177(7), 4927 - 32.
    • Warnatz K, Bossaller L, Salzer U, Skrabl-Baumgartner A, Schwinger W, van der Burg M, van Dongen JJ, Orlowska-Volk M, Knoth R, Durandy A, Draeger R, Schlesier M, Peter HH, Grimbacher B (2006). Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency. Blood, 107(8), 3045 - 3052.
    • Kittner JM, Grimbacher B, Wulff W, Jager B, Schmidt RE (2006). Patients' attitude to subcutaneous immunoglobulin substitution as home therapy. Journal of Clinical Immunology, 26(4), 400 - 405.
    • Finck A, Van der Meer JW, Schaffer AA, Pfannstiel J, Fieschi C, Plebani A, Webster AD, Hammarstrom L, Grimbacher B (2006). Linkage of autosomal-dominant common variable immuunodeficiency to chromosome 4q.. European Journal of Human Genetics, , - .
    • Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K (2006). HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).. Nature genetics, 39(1), 86 - 92.
    • Losi CG, Salzer U, Gatta R, Lougaris V, Cattaneo G, Meini A, Soresina A, Grimbacher B, Plebani A (2006). Mutational analysis of human BLyS in patients with Common Variable Immunodeficiency. Journal of Clinical Immunology, 26(4), 396 - 399.
    • Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schäffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C (2006). A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.. Nature medicine, 13(1), 38 - 45.
    • Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, Schaffer AA, Rathinam C, Kollner I, Beger C, Schike R, Welte K, Klein C, Grimbacher B (2006). Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood, , - .
    • Warnatz K, Bossaller L, Salzer U, Skrabl-Baumgartner A, Schwinger W, van der Burg M, van Dongen JJM, Orlowska-Volk M, Knoth R, Durandy A, Draeger R, Schlesier M, Peter HH, Grimbacher B (2006). Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency. BLOOD, 107(8), 3045 - 3052. doi:10.1182/blood-2005-072955
    • Marks A, Grimbacher B, Hostoffer R (2006). Autosomal dominant common variable immunodeficiency in a large pedigree.

    2005

    • Salzer U, Chapel HM, Webster AD, Pan-Hammarstrom Q, Schmitt-Graeff A, Schlesier M, Peter HH, Rockstroh JK, Schneider P, Schaffer AA, Hammarstrom L, Grimbacher B (2005). Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.. Nature Genetics, 37(8), 820 - 828. doi:10.1038/ng1600
    • Schaffer AA, Pfannstiel J, Webster AD, Plebani A, Hammarstrom L, Grimbacher B (2005). Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q. Human Genetics, 22, 1 - 5.
    • Wolf HM, Baumann U, Borte M, Grimbacher B, Schulze I, Schuster V, Weiss M (2005). Humoral immunodeficiency II: Antibody deficiency syndromes with known genetic defect. ALLERGOLOGIE, 28(12), 498 - 506.
    • Salzer U, Grimbacher B (2005). TACItly changing tunes: farewell to a yin and yang of BAFF receptor and TACI in humoral immunity? New genetic defects in common variable immunodeficiency.. Curr Opin Allergy Clin Immunol, 5(6), 496 - 503.
    • Wintergerst U, Gruber R, Grimbacher B (2005). [Treatment of primary immune defects].. MMW Fortschr Med, 147(5), 32 - 35.
    • Franco JL, Patino PJ, Woellner C, Salzer U, Montoya CJ, Orrego JC, Rugeles C, Grimbacher B, Castano D (2005). Deleterious homozygous mutations in CD19 are associated with humoral immunodeficiency in humans.
    • Grimbacher B, Wintergest U (2005). Immunologisch bedingte Krankheiten: Primäre Immundefekte. In (Ed.), Medizinishche Therapie (pp. - ). : Springer Verlag.
    • Castano D, Patino PJ, Woellner C, Salzer U, Grimbacher B, Montoya CJ, Orrego JC, Rugeles C, Franco JL (2005). Novel humoral immunodeficiency in humans associated with deleterious homozygous mutation in CD19..
    • Salzer U, Chapel HM, Webster ADB, Pan-Hammarstrom Q, Peter HH, Schmitt-Graff A, Rockstroh JK, Schaffer AA, Hammarstrom L, Grimbacher B (2005). Mutations in TACI are associated with immunodeficient phenotypes in humans..
    • Grimbacher B, Holland SM, Puck JM (2005). Hyper-IgE syndromes.. Immunol Rev, 203, 244 - 250. doi:10.1111/j.0105-2896.2005.00228.x
    • Horn JC, Bossaller L, Orlowska-Volk M, Schwinger W, Rauer S, Peter HH, Taylor N, Grimbacher B (2005). ICOS deficiency: News and views on clinics and pathogenesis..
    • Bohn G, Allroth A, Thiel J, Schaffer AA, Brandes G, Glocker E, Teis D, Taub N, Zeidler C, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C (2005). A variant of congenital neutropenia is caused by a 3'-UTR mutation in the gene encoding the endosomal adaptor protein p14 (MAPBPIP)..
    • Warnatz K, Salzer U, Gutenberger S, Schlesier M, Grimbacher B, Peter HH, Eibel H (2005). Finally found: Human BAFF-R deficiency causes hypogammaglobulinemia..

    2004

    • Salzer U, Maul-Pavicic A, Cunningham-Rundles C, Urschel S, Belohradsky BH, Litzmann J, Holm A, Franco JL, Plebani A, Hammarstrom L, Skrabl A, Schwinger W, Grimbacher B (2004). ICOS-deficiency in patients with Common Variable Immunodeficiency. Clinical Immunology, 113(3), 234 - 240.
    • Gadola S, Salzer U, Schultz H, Grimbacher B (2004). [Adult-onset primary immunodeficiencies].. Internist (Berl), 45(8), 912 - 922. doi:10.1007/s00108-004-1230-7
    • Grimbacher B, Schäffer AA, Peter HH (2004). The genetics of hypogammaglobulinemia.. Curr Allergy Asthma Rep, 4(5), 349 - 358.
    • Renner ED, Puck JM, Holland S, Schmitt M, Weiss M, Frosch M, Bergmann M, Davis J, Belohradsky B, Grimbacher B (2004). Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. The Journal of Pediatrics, 144, 93 - 99.
    • Hubert A, Baumann U, Borte M, Habermehl P, Schulze I, Schuster V, Wolf H, Grimbacher B (2004). Humoral immunodeficiency I: Antibody deficiency syndromes without familiar genetic defect. ALLERGOLOGIE, 27(7), 296 - 310.
    • Renner E, Belohradsky B, Grimbacher B (2004). Hyper-IgE-syndrome. ALLERGOLOGIE, 27(10), 408 - 414.
    • Kotter I, Vonthein R, Zierhut M, Eckstein AK, Ness T, Gunaydin I, Grimbacher B, Blaschke S, Peter HH, Stubiger N (2004). Differential efficacy of human recombinant interferon-alpha2a on ocular and extraocular manifestations of Behcet disease: results of an open 4-center trial. Seminars in Arthritis and Rheumatism, 33(5), 311 - 319.

    2003

    • Kotter I, Treusch M, Vonthein R, Zierhut M, Eckstein A, Ness T, Gunaydin I, Grimbacher B, Blaschke S, Peter HH, Stubiger N (2003). Efficacy of recombinant human interferon-alfa2a on ocular and extra-ocular manifestations of Behcet's disease and influence on cells of the immune system: results of an open four center trial. doi:10.1186/ar980
    • Kroczek RA, Grimbacher B, Hutloff A, Schlesier M, Glocker E, Warnatz K, Drager R, Eibel H, Fischer B, Schaffer AA, Mages HW, Peter HH (2003). Homozygous loss of ICOS causes adult-onset common variable immunodeficiency.
    • Kotter I, Zierhut M, Eckstein A, Vonthein R, Ness T, Gunaydin I, Grimbacher B, Blaschke S, Peter HH, Kanz L, Stubiger N (2003). Human recombinant interferon-alpha2a (rhIFN alpha2A) for the treatment of Behcet's disease with sight-threatening retinal vasculitis. Advances in Experimental Medicine and Biology, 528, 521 - 523.
    • Zierhut M, Stubiger N, Eckstein AK, Vonthein R, Ness T, Guenaydin I, Grimbacher B, Blaschke S, Meyer-Riemann W, Kotter I (2003). Human recombinant interferon-alpha2a in the treatment of Behcet's disease with sight threatening retinal vasculitis.
    • Braig DU, Schäffer AA, Glocker E, Salzer U, Warnatz K, Peter HH, Grimbacher B (2003). Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity. Human Genetics, 112, 369 - 378.
    • Kotter I, Zierhut M, Eckstein AK, Vonthein R, Ness T, Gunaydin I, Grimbacher B, Blaschke S, Meyer-Reimann W, Peter HH, Stubiger N (2003). Human recombinant interferon-alpha2a for the treatment of Behcet's disease with sight-threatening posterior or panuveitis. British Journal of Ophthalmology, 87(4), 423 - 431.
    • Diehl S, Vernazza P, Trein A, Schnaitmann E, Grimbacher B, Setzer B, Walker UA (2003). Mitochondrial DNA and sperm quality in patients under antiretroviral therapy.. AIDS, 17(3), 450 - 451. doi:10.1097/01.aids.0000050834.06065.78
    • Grimbacher B, Warnatz K, Peter HH (2003). The immunological synapse for B-cell memory: the role of the ICOS and its ligand for the longevity of humoral immunity.. Curr Opin Allergy Clin Immunol, 3(6), 409 - 419. doi:10.1097/01.all.0000104458.09202.24
    • Grimbacher B, Hutloff A, Sclesier E, Glocker E, Warnatz K, Dräger R, Eibel H, Fischer B, Schäffer A, Mages MW, Kroczek RA, Peter HH (2003). Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nature Immunology, 4(3), 261 - 268. doi:10.1038/ni902

    2002

    • Grimbacher B, Belohradsky BH, Holland SM (2002). Immunoglobulin E in primary immunodeficiency diseases.. Allergy, 57(11), 995 - 1007.
    • Renner ED, Belohradsky BH, Grimbacher B (2002). Hyper-IgE syndrome. MONATSSCHR KINDERH, 150(10), 1168 - +. doi:10.1007/s00112-002-0580-2
    • Diehl S, Vernazza P, Trein A, Schnaitmann E, Grimbacher B, Setzer B, Walker UA (2002). Mitochondrial DNA and sperm quality in patients under antiretroviral therapy.

    2001

    • Atkinson TP, Schaffer AA, Grimbacher B, Schroeder HW, Woellner C, Zerbe CS, Puck JM (2001). An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family. The American Journal of Human Genetics, 69(4), 791 - 803.

    2000

    • O'Connell AC, Puck JM, Grimbacher B, Facchetti F, Majorana A, Gallin JI, Malech HL, Holland SM (2000). Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology, 89(2), 177 - 085.
    • Hundt M, Manger K, Dorner T, Grimbacher B, Kalden P, Rascu A, Weber D, Burmester GR, Peter HH, Kalden JR, Schmidt RE (2000). Treatment of acute exacerbation of systemic lupus erythematosus with a high-dose immunoglobulin. Rheumatology, 39(11), 1301 - 1302.
    • Franco JL, Rosenzweig S, Montoya CJ, Grimbacher B, Holland SM, Patino PJ, Zelazko M, Puck JP (2000). Multisystem findings and cytokine studies of immune disfunction in hyper IgE syndrome. FASEB J, 14(6), A932 - A932.
    • Kotter I, Stubiger N, Eckstein A, Gunaydin E, Grimbacher B, Ness T, Peter HH, Kanz L, Zierhut M (2000). Recombinant human interferon-alpha 2a (IFN alpha 2a) in the treatment of ocular Behcet's disease (BD) - An open, three center pilot study.. ARTHRITIS RHEUM, 43(9), S162 - S162.

    1999

    • Grimbacher B, Holland SM, Puck JM (1999). Hyper-IgE syndrome - Reply. NEW ENGL J MED, 341(5), 376 - 377.
    • Grimbacher B, Schaffer AA, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson TP, Belohradsky BH, Buckley RH, Cossu F, Espanol T, Garty BZ, Matamoros N, Myers LA, Nelson RP, Ochs HD, Renner ED, Wellinghausen N, Puck JM (1999). Genetic linkage of hyper-IgE syndrome to chromosome 4. The American Journal of Human Genetics, 65(3), 735 - 744.
    • Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI, Puck JM (1999). Analphooid marker chromosomes in a patient with hyper-IgE syndrome, autism, and mild mental retardation. Genetics in Medicine, 1(5), 213 - 218.
    • Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, Miller JA, O'Connell AC, Puck JM (1999). Hyper-IgE syndrome with recurrent infections - an autosomal dominant multisystem disorder. New England Journal of Medicine, 340(9), 692 - 702.
    • Aicher WK, Dinkel A, Grimbacher B, Haas C, Seydlitz-Kurzbach EV, Peter HH, Eibel H (1999). Serum response elements activate and cAMP responsive elements inhibit expression of transcription factor Egr-1 in synovial fibroblasts of rheumatoid arthritis patients. International Immunology, 11(1), 47 - 61.

    1998

    • von Kempis J, Kalden P, Gutfleisch J, Grimbacher B, Krause T, Uhl M, Ketelsen UP, Volk B, Rother E, Vaith P (1998). Diagnosis of idiopathic myositis: value of 99mtechnetium pyrophosphate muscle scintigraphy and magnetic resonance imaging in targeted muscle biopsy. Rheumatology International, 17(5), 207 - 213.
    • Grimbacher B, Aicher WK, Peter HH, Eibel H (1998). TNF-alpha induces the transcription factor Egr-1, pro-inflammatory cytokines and cell proliferation in human skin fibroblasts and synovial lining cells. Rheumatology International, 17(5), 185 - 192.
    • Grimbacher B, Dutra A, Holland S, Gallin J, Puck J (1998). Hyper-IgE recurrent infection syndrome (HIERIS): New clinical features, family studies and a case with cytogenetic anomaly. MOL IMMUNOL, 35(11-12), 750 - 750.
    • Kotter I, Stubiger N, Eckstein AK, Heiligenhaus A, Gunaydin I, Jacki SH, Grimbacher B, Ness T, Peter HH, Kanz L, Zierhut M (1998). Treatment of ocular Behcet's disease (BD) with recombinant human interferon-alpha 2a (rhIFN-alpha 2a) - A three center pilot study. ARTHRITIS RHEUM, 41(9), S355 - S355.
    • Grimbacher B, Dutra A, Holland S, Malech H, Gallin J, Puck J (1998). Hyper-IgE recurrent infection syndrome (HIERIS): New clinical features, family studies and a case with cytogenetic anomaly.. ARTHRITIS RHEUM, 41(9), S264 - S264.
    • Grimbacher B, Huber M, von Kempis J, Kalden P, Uhl M, Kohler G, Blum HE, Peter HH (1998). Successful treatment of gastrointestinal vasculitis due to systemic lupus erythematosus with intravenous pulse cyclophosphamide: a clinical case report and review of the literature. British Journal of Rheumatology, 37(9), 1023 - 1028.
    • Grimbacher B, Holland SN, Puck JM (1998). The interleukin-4 receptor variant Q576R in hyper-IgE syndrome. New England Journal of Medicine, 338(15), 1073 - 1074.

    1997

    • Grimbacher B, Wenger B, Deibert P, Ness T, Koetter I, Peter HH (1997). Loss of vision and diarrhoea. The Lancet, 350(9094), 1818 - 1818.
    • Grimbacher B, Peters T, Peter HH (1997). Lactose-intolerance may induce severe chronic eczema. International Archives of Allergy and Immunology, 113(4), 516 - 518.
    • Grimbacher B, Aicher WK, Peter HH, Eibel H (1997). Measurement of transcription factor c-fos and EGR-1 mRNA transcription levels in synovial tissue by quantitative RT-PCR. Rheumatology International, 17(3), 109 - 112.
    • Greenberg F, Grimbacher B, Gallin J, Malech H, Puck J, Holland S (1997). The dysmorphology and genetics of job hyper IgE syndrome.. AM J HUM GENET, 61(4), A6 - A6.

    1993

    • AICHER WK, GRIMBACHER B, GAY S, EIBEL H (1993). INDUCTION OF EARLY GROWTH-RESPONSE GENE EGR-1 TRANSCRIPTION IN QUIESCENT FIBROBLASTS BY RHEUMATOID-ARTHRITIS (RA) SYNOVIAL FIBROBLAST CONDITIONED MEDIUM. J IMMUNOL, 150(8), A236 - A236.