Genetic and functional mechanisms of susceptibility to infection
We are 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. We 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.
Also, we have discovered the genetic basis of another rare PID, known as the BILU syndrome (click here)
Ivan Angulo, Oscar Vadas, Fabien Garçon, Edward Banham-Hall, Vincent Plagnol Timothy R. Leahy,Helen Baxendale, Tanya Coulter, James Curtis, Changxin Wu, Katherine Blake-Palmer, Olga Perisic,Deborah Smyth, Mailis Maes, Christine Fiddler, Jatinder Juss, Deirdre Cilliers, Gašper Markelj,Anita Chandra, George Farmer, Anna Kielkowska, Jonathan Clark, Sven Kracker, Marianne Debré,Capucine Picard, Isabelle Pellier, Nada Jabado, James A. Morris, Gabriela Barcenas-Morales,Alain Fischer, Len Stephens, Phillip Hawkins, Jeffrey C. Barrett, Mario Abinun, Menna Clatworthy,Anne Durandy, Rainer Doffinger, Edwin Chilvers, Andrew J. Cant, Dinakantha Kumararatne,Klaus Okkenhaug, Roger L. Williams, Alison Condliffe, Sergey Nejentsev: Phosphoinositide 3-Kinase delta Gene Mutation Predisposes to Respiratory Infection and Airway Damage. Science 342:866-71, 2013
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