title: Common variable immunodeficiency: an update on etiology and management.
abstract: Common variable immunodeficiency (CVID) represents a heterogeneous group of primary antibody deficiency disorders characterized by recurrent infection and by inflammatory, granulomatous, and autoimmune complications. Recently, there have been significant advances in understanding the pathogenesis of the disease, with five genetic mutations identified in patients who have a CVID phenotype. Clinical care also has progressed with refinements in treatment and the development of classification schemes for prognostic and research purposes. Significant delays in diagnosis remain, however. It is likely that more genetic defects will be identified in the future, further shrinking the pool of patients who have CVID of unknown cause.
authors.affiliation: Department of Clinical Immunology, Kings College Hospital, London SE5 9RS, UK.
authors.forename: Patrick F K
authors.initials: PF
authors.lastname: Yong
authors.forename: Michael
authors.initials: M
authors.lastname: Tarzi
authors.forename: Ignatius
authors.initials: I
authors.lastname: Chua
authors.forename: Bodo
authors.initials: B
authors.lastname: Grimbacher
authors.forename: Ronnie
authors.initials: R
authors.lastname: Chee
mesh_terms: D000818:Animals; D018941:Antigens, CD19 / Q000378:metabolism; D000945:Antigens, Differentiation, T-Lymphocyte / Q000378:metabolism; D018797:Cell Cycle Proteins / Q000235:genetics / Q000378:metabolism; D017074:Common Variable Immunodeficiency / Q000209:etiology* / Q000235:genetics / Q000276:immunology / Q000628:therapy*; D016207:Cytokines / Q000276:immunology / Q000378:metabolism; D006801:Humans; D007154:Immune System Diseases / Q000276:immunology / Q000378:metabolism; D060889:Inducible T-Cell Co-Stimulator Protein; D007239:Infections / Q000209:etiology; D009154:Mutation; D011788:Quality of Life; D012008:Recurrence; D053303:Transmembrane Activator and CAML Interactor Protein / Q000172:deficiency* / Q000276:immunology
chemical_list: D018941:Antigens, CD19; D000945:Antigens, Differentiation, T-Lymphocyte; D018797:Cell Cycle Proteins; D016207:Cytokines; C556692:ICOS protein, human; D060889:Inducible T-Cell Co-Stimulator Protein; C118481:MSH5 protein, human; D053303:Transmembrane Activator and CAML Interactor Protein