Immunodeficiency, Common Variable, 5; Cvid5

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Immunodeficiency, Common Variable, 5; Cvid5

MS4A1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Immunodeficiency, Common Variable, 5; Cvid5

Immunodeficiency
Recurrent respiratory infections
Respiratory tract infection
Decreased antibody level in blood
Recurrent bacterial infections

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Immunodeficiency, Common Variable, 5; Cvid5 Is also known as antibody deficiency due to cd20 defect.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Immunodeficiency, Common Variable, 5; Cvid5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MS4A1 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). MS4A1 Specificity 100 % Genes 100 %
MS4A1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). MS4A1 Specificity 100 % Genes 100 %
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM , (...) View the complete list with 15 more genes Panel complete gene list SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM, IGLL1, XIAP, IKBKG, MRE11, MS4A1, NBN, NFKB2, NFKBIA, ATM, PIK3CD, PIK3R1, PLCG2, PRKCD, PTPRC, RAG2 Specificity 3 % Genes 100 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...) View the complete list with 386 more genes Panel complete gene list BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC22A5, SLC25A13, SLC26A1, SLC2A2, SLC34A1, SLC3A1, SLC4A4, SLC5A2, SLC7A7, SLC7A9, SLC9A3R1, SMARCAL1, SOX18, STX16, SUCLA2, SUCLG1, TALDO1, TBC1D1, TBX18, HNF1A, HNF1B, THBD, TNXB, TRPC6, TSC1, TSC2, CEP41, UMOD, UPK3A, UROD, VDR, VHL, VPS33B, WNT4, WT1, XDH, IKZF1, C3, ARL6, NEK8, NPHS2, SLC2A9, IFT122, ADAMTS13, CA2, CACNA1D, CACNA1H, ANLN, CD2AP, TMEM237, WNK1, WNK4, CASR, CBS, IFT52, SALL4, TRAP1, CD19, MAGED2, TRIM32, BSND, ACTN4, SCARB2, ZNF423, CDC73, CFHR4, CFHR3, CD81, DICER1, PLCE1, RRM2B, LRBA, CDC5L, KAT6B, XPO5, SARS2, TNFRSF13C, CDKN1B, INVS, CEP83, SLC22A12, TRPM6, SLC22A10, SOX17, DCDC2, TNFRSF13B, MOCOS, SEC61A1, WDR19, HPSE2, IFT27, NUP205, CRB2, GRIP1, BBS7, SLC36A2, MMAA, COQ8B, NPHP4, CHD1L, KIF14, FRAS1, KANK1, MMAB, BICC1, SLC41A1, SBDS, CHRM3, EIF2AK4, EVC2, KIAA0586, GREM1, TTC8, TMEM260, CLCN5, COQ6, CLCNKA, CLCNKB, SLC34A3, CLDN10, CLDN16, CLDN19, APOPT1, LRIG2, SERAC1, SEC63, RMND1, IFT74, INPP5E, AHI1, WDR60, COL4A1, COL4A3, COL4A4, COL4A5, COX10, COX6B1, PEX26, LMBRD1, PDSS2, SLC16A12, ALG8, CR2, FREM1, INF2, B9D1, TACO1, TCTN3, MMACHC, DYNC2LI1, CFHR5, KANK3, CEP104, TMEM216, HOGA1, CTNS, MMADHC, COQ2, ARHGAP24, FREM2, ARL13B, CUBN, CUL3, TTC21B, OFD1, TCTN2, CPLANE1, CYP11B1, CYP11B2, WDR73, CYP17A1, CYP24A1, SDHAF2, TMEM127, TCTN1, CSPP1, BBS10, BBS12, CEP120, ANKS6, TMEM138, KANK4, FLCN, SLC6A19, WDPCP, XPNPEP3, BBIP1, CCDC28B, WDR34, TMEM67, CCNQ, GLIS3, DGKE, DHCR7, B9D2, DIS3L2, MAGT1, IQCB1, NUP93, CEP290, DSTYK, KIAA0556, IFT140, FASTKD2, RPGRIP1L, FAN1, CEP164, TBC1D24, WDR35, CC2D2A, IFT80, KANK2, DMP1, GLIS2, MAPKBP1, DYNC2H1, IFT43, NUP107, BBS9, SLC26A3, IFT172, KIF7, STRA6, POC1B, SLC6A20, EGF, EHHADH, EIF2AK3, EMP2, ENPP1, AGTR1, AGTR2, COA5, AGXT, ETFA, ETFB, ETFDH, EVC, EYA1, FAH, FAT1, FGA, FGF20, FGF23, FH, TMEM231, FN1, ALAD, FXYD2, G6PC, GALNT3, GALT, GANAB, GATA3, GCDH, GCM2, ALMS1, GLA, GLB1, GNAS, GRHPR, GUCY2C, HADHA, HADHB, CFH, CFHR1, CFHR2, HMBS, HMGCL, HNF4A, HPRT1, HRAS, HSD11B2, ICOS, CFI, IL21, ITGA3, ITGA8, APOL1, JAG1, JAK3, ANOS1, KCNA1, KCNJ1, KCNJ10, APRT, KCNJ5, KCNMB1, AQP2, KL, KLHL3, MAFB, LAMA5, LAMB2, LAMC1, LCAT, LIFR, ARG1, LMX1B, LRP2, LRP4, LRP5, LYZ, LZTFL1, ARHGDIA, ABCD4, MAGEC1, MAX, CD46, MEFV, MEN1, MET, MKKS, MKS1, MPL, MS4A1, ASL, MUC1, MMUT, MVK, MYH9, ASS1, MYO1E, NEK1, NF1, NF2, NFKB1, NFKB2, NOTCH2, NPC1, NPHP1, NPHP3, NPHS1, NR3C2, NRIP1, OCRL, OTC, ATP6V1B1, PAX2, PAX6, PCBD1, PCCA, PCCB, ATP6V0A4, ATP7B, PDE3A, PDE6D, PEX1, PEX10, PEX11B, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGAM2, PGK1, AUH, PHEX, AVPR2, PIK3CA, PKD1, PKD2, PKHD1, PMM2, ACAT1, PRKAR1A, PRKCSH, PRPS1, PTH1R, BBS1, BBS2, PTPRO, BBS4, BBS5, PEX19, PEX2, PEX5, PYGM, RAD51C, RBM8A, REN, RET Specificity 1 % Genes 100 %
Antibody deficiencies Panel. By CeGaT GmbH (Germany). BTK, TCF3, TCF4, CD40, TNFSF12, CD40LG, UNG, AICDA, BLNK, RTEL1, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, LRRC8A, CR2, DKC1 , (...) View the complete list with 8 more genes Panel complete gene list BTK, TCF3, TCF4, CD40, TNFSF12, CD40LG, UNG, AICDA, BLNK, RTEL1, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, LRRC8A, CR2, DKC1, ICOS, IGHM, IGKC, IGLL1, IL21, MS4A1, NFKB2, PIK3R1 Specificity 4 % Genes 100 %
Common variable immunodeficiency. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain). CD19, CD81, TNFRSF13C, TNFRSF13B, CR2, ICOS, IL21, MS4A1, NFKB1 Specificity 12 % Genes 100 %
MS4A1. By Fulgent Genetics Fulgent Genetics (United States). MS4A1 Specificity 100 % Genes 100 %
Immune Report Card. By OmniSeq, Inc. (United States). CXCL10, STAT1, TBX21, TGFB1, TNF, TNFRSF14, TNFRSF18, CD40, CD27, TNFRSF9, TNFSF4, CD40LG, CCR2, CD163, CD2, CD28, CXCR6, CD38, CD4, CD68 , (...) View the complete list with 24 more genes Panel complete gene list CXCL10, STAT1, TBX21, TGFB1, TNF, TNFRSF14, TNFRSF18, CD40, CD27, TNFRSF9, TNFSF4, CD40LG, CCR2, CD163, CD2, CD28, CXCR6, CD38, CD4, CD68, CD80, CD86, CD8A, ICOSLG, CD244, HAVCR2, PDCD1LG2, DDX58, BTLA, CSF1R, CTLA4, ADORA2A, VSIR, GZMB, ICOS, IFNG, IL10, IL1B, IDO1, FOXP3, KLRD1, LAG3, MS4A1, MX1 Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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