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Common Variable Immunodeficiency

CVID is traditionally characterized by low immunoglobulin serum levels and defective antibody response, in the presence of normal peripheral B cell numbers. The spectrum of clinical manifestations of CVID includes recurrent infections, mainly of the respiratory and gastrointestinal tract, autoimmune phenomena ranging from autoimmune thyroiditis to Systemic lupus erythematosus (SLE), autoimmune cytopenias, splenomegaly, granulomata and increased susceptibility to cancer and lymphomas. The age of onset is variable, with higher prevalence during the second and third decade of life; both sexes are involved in an equal manner. Long term follow-up of numerous cohorts of CVID patients has provided evidence for the great heterogeneity of this disorder, both at the clinical and immunological level, suggesting that CVID, can be considered a collection of primary immunodeficiency diseases all sharing a common immunological phenotype (i.e. low immunoglobulin serum levels, defective antibody response in the presence of normal peripheral B cell counts), which is caused by different genetic defects. This diverse genetic background offers insight regarding both the clinical heterogeneity of CVID and the immunological differences, beyond the classical immunological presentation, revealed recently through more detailed and advanced immunological evaluations. The Genetic Heterogeneity of Common Variable Immunodeficiency (CVID): An Update: Vasssilios Lougaris, Giacomo Tampella, Manuela Baronio, Massimiliano Vitali and Alessandro Plebani
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Last date updated on September, 2024

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