Novel NF-kB mutations in common variable immunodeficiency (CVID)
Common variable immunedeficiency (CVID) is the most common symptomatic primary immunodeficiency. The cardinal manifestations are hypogammaglobulinaemia and recurrent infections. In fact, CVID is a heterogeneous cluster of disorders associated with not only infection but also autoimmune disease, sarcoidosis-like granulomatous inflammation, and neoplasia. In a minority of cases, CVID follows simple Mendelian inheritance, and in other cases, there is familial...[Show more]
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