Ontology highlight
ABSTRACT:
SUBMITTER: Turvey SE
PROVIDER: S-EPMC4167767 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Turvey Stuart E SE Durandy Anne A Fischer Alain A Fung Shan-Yu SY Geha Raif S RS Gewies Andreas A Giese Thomas T Greil Johann J Keller Bärbel B McKinnon Margaret L ML Neven Bénédicte B Rozmus Jacob J Ruland Jürgen J Snow Andrew L AL Stepensky Polina P Warnatz Klaus K
The Journal of allergy and clinical immunology 20140801 2
Next-generation DNA sequencing has accelerated the genetic characterization of many human primary immunodeficiency diseases (PIDs). These discoveries can be lifesaving for the affected patients and also provide a unique opportunity to study the effect of specific genes on human immune function. In the past 18 months, a number of independent groups have begun to define novel PIDs caused by defects in the caspase recruitment domain family, member 11 (CARD11)-B-cell chronic lymphocytic leukemia/lym ...[more]