title: [Immunological alterations in common variable immunodeficiency].
abstract: Common variable immunodeficiency (CVID) is the largest group of symptomatic primary immune deficiencies; it is characterized by hypogammaglobulinemia, poor response to vaccines and increased susceptibility to infections. Cellular phenotypes and abnormalities have been described both in adaptive and innate immune response. Several classifications of common variable immunodeficiency are based on defects found on T and B cells, which have been correlated with clinical manifestations. In recent years, significant progress has been made in elucidating the genetic mechanisms that result in a IDCV phenotype. Massive sequencing technologies have favored the description of mutations in several genes, but only in 2 % to 10 % of patients. These monogenetic defects are: ICOS, TNFRSF13B (TACI), TNFRS13C (BAFFR), TNRFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), (CD27), LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R, VAV1, RAC1, BLK, IKZF1 (IKAROS) and IRF2BP2. These findings have provided a possible explanation for the pathogenesis of IDCV, since these molecules play an important role in the co-operation between B and T cells in the germinal center, as well as in intrinsic signaling pathways of both.
authors.affiliation: Secretaría de Salud, Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias. Ciudad de México, México. lberronruiz@yahoo.com.mx.
authors.forename: Laura
authors.initials: L
authors.lastname: Berrón-Ruiz
mesh_terms: D056704:Adaptive Immunity; D015551:Autoimmunity; D017074:Common Variable Immunodeficiency / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000276:immunology*; D004198:Disease Susceptibility; D005767:Gastrointestinal Diseases / Q000209:etiology; D056726:Genetic Association Studies; D006801:Humans; D007113:Immunity, Innate; D008211:Lymphocyte Cooperation; D016131:Lymphocyte Subsets / Q000276:immunology; D012141:Respiratory Tract Infections / Q000209:etiology
keywords: B cells; Common variable immunodeficiency; Innate immune responsive; T cells