Common Variable Immunodeficiency/Cvid

Abstract

Nouf Khalid Hamid

“Variable” refers to the heterogeneousclinicalmanifestations of thisdisorder, which can include: recurrentinfections, chroniclungdisease, autoimmune disorders, also involve varioussegments of the gastrointestinaltract and a heightenedsusceptibility to lymphoma. Itis a primaryimmunodeficiencythataffects 1 in 50,000 peopleworldwide. Itischaracterized by reducedimmunoglobulinserumlevels and absent or impairedantibody production. The pathogenic of CVID isnotknown; however, therehavebeennumerousassociatedlaboratoryfindingsincludingnumerousmutations in the genesresult in dysfunctional B cells. The mostfrequentmutationsoccur in the TNFRSF13B gene. Genesthathavebeenimplicated in monogenic CVID include ICOS, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), TNFRSF7 (CD27), IL21, IL21R, LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R1, VAV1, RAC2, BLK, IKZF1 (IKAROS) and IRF2BP2 [1]. In addition, thereisevidence of complexinheritanceratherthan a monogenic CVID.

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