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.
MeSH terms
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Animals
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Antigens, CD19 / metabolism
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Antigens, Differentiation, T-Lymphocyte / metabolism
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Cell Cycle Proteins / genetics
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Cell Cycle Proteins / metabolism
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Common Variable Immunodeficiency / etiology*
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Common Variable Immunodeficiency / genetics
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Common Variable Immunodeficiency / immunology
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Common Variable Immunodeficiency / therapy*
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Cytokines / immunology
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Cytokines / metabolism
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Humans
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Immune System Diseases / immunology
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Immune System Diseases / metabolism
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Inducible T-Cell Co-Stimulator Protein
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Infections / etiology
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Mutation
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Quality of Life
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Recurrence
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Transmembrane Activator and CAML Interactor Protein / deficiency*
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Transmembrane Activator and CAML Interactor Protein / immunology
Substances
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Antigens, CD19
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Antigens, Differentiation, T-Lymphocyte
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Cell Cycle Proteins
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Cytokines
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ICOS protein, human
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Inducible T-Cell Co-Stimulator Protein
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MSH5 protein, human
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Transmembrane Activator and CAML Interactor Protein