Division of Infection and Immunity


IIT Seminar | Dr Sergey Nejentsev

13 June 2019, 12:00 pm–1:00 pm

'Primary immunodeficiencies: lessons from rare diseases and therapeutic implications'

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Dr Siobhan Burns (Host)


Lecture Theatre 3
UCL Medical School, Royal Free Campus
Rowland Hill Street
United Kingdom

Dr Sergey Nejentsev of the Department of Medicine at the University of Cambridge  will be speaking at the UCL Institute of Immunity and Transplantation Seminar Series on Thursday 13 June. The seminar will be held in Lecture Theatre 3 at the UCL Medical School Royal Free Campus.

Dr Nejentsev work focuses on the genetic basis of Primary Immunodeficiencies (PIDs) including the rare PID, known as the BILU syndrome. The Nejentsev lab use whole exome sequencing to search for causative mutations, followed by detailed functional molecular analyses of the affected cellular pathways.

Recently, they discovered a novel PID called Activated PI3K-Delta Syndrome (APDS), which is caused by a dominant gain-of-function mutation in the Phosphoinositide 3-kinase δ Gene (Angulo et al, Science, 2013). APDS patients have antibody deficiency, suffer recurrent respiratory infections and rapidly develop airway damage (bronchiectasis). This study suggests that selective PI3Kδ inhibitors may provide a novel specific and efficient treatment approach for APDS patients.

The Nejentsev lab are also searching for genes in the human genome that carry sequence variants, which are involved in resistance to infection and predispose to infectious diseases. Discovery of such genes can open new biological pathways and suggest new targets for intervention. The Nejentsev lab use methods of human genetics, including genome-wide association studies (GWAS) and exome sequencing, in vitro models of infection and methods of molecular biology to understand underlying biological mechanisms protecting from infection.

All are welcome to attend. If you would like to meet the speaker after the seminar please contact the host.

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