Immune Deficiency, Familial Variable

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

ICOS, NFKB2, TNFRSF13B, CD19, CR2, TNFRSF13C, NFKB1, CD81, MS4A1, CTLA4, IL21, IKZF1, IRF2BP2, TNFSF12, PRKCD, IL2RA, HAVCR1, GPR35, FGF14, LAMB4, ADGRL2, SRPX, ATXN2L, FUT2, CRB1, CARD9, ERAP2, TNFSF15, ZNF630, ZMIZ1, CDK14, MAN1C1, ATG16L1, NKD1, IGF2-AS, TNF, SMAD3, ADCY7, SUOX, ANKRD55, FNBP1, IRF1-AS1, C1orf141, KANTR, LINC00993, LINC01250, GNG12-AS1, ANKRD30A, DAG1, INS-IGF2, OR14J1, LRRK2, IL23R, TAB3, SNX31, LURAP1L, CACNA1C, CD27, TNFSF13B, CD40LG, FOXP3, SH2D1A, BTK, IL10, TLR9, TNFSF13, IL6, IL2, IFNG, LRBA, CD40, TLR4, BCL2, HLA-A, ANP32B, MBL2, TLR2, RAG1, CCR7, IGAD1, TRBV20OR9-2, STAT3, IL4, AICDA, ISG20, IFNA1, IFNA13, SBDS, VAV1, FCGR2A, APCS, FCGR3A, ICOSLG, TNFRSF8, FCGR3B, FCGRT, IGHG3, BCL6, POMC, BCR, SERPINA1, HLA-DQB1, IRF4, MTA2, TNFRSF18, HLA-C, IL22, ADIPOQ, CD38, CD86, TBX19, EBI3, ACTB, SWAP70, CLEC16A, CENPX, NLRP12, IL33, CARD11, NEIL1, NOD2, SCYL1, ARHGEF7, IFNK, KRT20, TOLLIP, TLR7, ADIPOR1, ASCC1, IL21R, NT5C, IGHV3-75, CLDN15, SMUG1, CLDN2, PRKAR1A, IL18R1, GEM, DPP4, DUSP5, CELSR3, FCN2, FUS, GATA3, HFE, CHIT1, HLA-B, HLA-DQA1, HLA-DRB1, HLA-DRB3, HSPG2, IL5, DNMT1, CDH13, IL17A, CXCR5, AIC, XIAP, FAS, AR, TNFRSF17, BLK, CAMLG, CD70, CASP3, CASP9, CD1D, CD14, CD28, CD69, IL7, ITGAM, BHLHE40, TCOF1, CCL19, CCL21, XCL1, SDC1, STAT5A, STAT5B, TERT, PTPRC, TNFRSF1B, TP53, UCHL1, VDR, XBP1, CDR3, RAG2, POU2AF1, ITGAX, MPO, ITK, KIR2DS1, KIR3DL1, KIR3DL2, LCK, LTA, MRC1, PIK3CD, MSH5, MYD88, NCAM1, NEDD9, ORC4, PAX5, H3P40

Drugs

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Rosen and Bougas (1963) reported the case of a woman with recurrent infection, marked elevation of 19S gamma globulin, and virtual absence of 7S. Feldman et al. (1975) found that 12 relatives had a variable immunodeficiency. Ten had elevation of IgM, combined with deficiency of IgG and IgA in 3 and deficiency of one or the other in 2. Five had only elevated IgM and 2 had normal IgM but deficiency of IgG and IgA. No male-to-male transmission was observed.