Identification of Novel Genetic Variants in CVID Patients With Autoimmunity, Autoinflammation, or Malignancy.

ABSTRACT: Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by recurrent bacterial infections and defined by reduced levels of IgG, IgA, and/or IgM, insufficient response to polysaccharide vaccination, and an abnormal B-cell immunophenotype with a significantly reduced fraction of isotype-switched memory B cells. In addition to this infectious phenotype, at least one third of the patients experience autoimmune, autoinflammatory, granulomatous, and/or malignant complications. The very heterogeneous presentation strongly suggests a collection of different disease entities with somewhat different pathogeneses and most likely diverse genetic etiologies. Major progress has been made during recent years with the advent and introduction of next-generation sequencing, initi

SUBMITTER: Christiansen M 

PROVIDER: S-EPMC6996488 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature