Immunodeficiency, Common Variable, 1; Cvid1

Description

Common variable immunodeficiency (CVID) is a clinically and genetically heterogeneous group of disorders characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections, and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B cells are usually in the normal range, but can be low. Most individuals with CVID have onset of infections after age 10 years. CVID represents the most common form of primary immunodeficiency disorders and is the most common form of primary antibody deficiency. Approximately 10 to 20% of patients with a diagnosis of CVID have a family history of the disorder (reviews by Chapel et al., 2008, Conley et al., 2009, and Yong et al., 2009). Genetic Heterogeneity of Common Variable ImmunodeficiencyCommon variable immunodeficiency is a genetically heterogeneous disorder. See also CVID2 (OMIM ), caused by mutation in the TACI gene (TNFRSF13B ); CVID3 (OMIM ), caused by mutation in the CD19 gene (OMIM ); CVID4 (OMIM ), caused by mutation in the BAFFR gene (TNFRSF13C ); CVID5 (OMIM ), caused by mutation in the CD20 gene (OMIM ); CVID6 (OMIM ), caused by mutation in the CD81 gene (OMIM ); CVID7 (OMIM ), caused by mutation in the CD21 gene (CR2 ); CVID8 (OMIM ), caused by mutation in the LRBA gene (OMIM ); CVID10 (OMIM ), caused by mutation in the NFKB2 gene (OMIM ); CVID11 (OMIM ), caused by mutation in the IL21 gene (OMIM ); CVID12 (OMIM ), caused by mutation in the NFKB1 gene (OMIM ); CVID13 (OMIM ), caused by mutation in the IKZF1 gene (OMIM ); and CVID14 (OMIM ), caused by mutation in the IRF2BP2 gene (OMIM ).The disorder formerly designated CVID9 has been found to be a form of autoimmune lymphoproliferative disorder; see ALPS3 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency, Common Variable, 1; Cvid1

  • Hepatomegaly
  • Splenomegaly
  • Diarrhea
  • Pneumonia
  • Recurrent respiratory infections
  • Immunodeficiency
  • Recurrent infections
  • Brachycephaly
  • Elevated hepatic transaminase
  • Arthralgia
And another 38 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Immunodeficiency, Common Variable, 1; Cvid1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PRKCD Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PRKCD
Specificity
100 %
Genes
10 %
Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

UNG, ADA, IKBKG, ATM, MRE11, NBN, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, XIAP, PTPRC, PIK3CD, LRBA, NFKBIA, NFKB2, PIK3R1 , (...)

View the complete list with 15 more genes
Specificity
26 %
Genes
82 %
Humoral dysfunction Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
21 %
Genes
46 %
Humoral dysfunction Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
21 %
Genes
46 %
Humoral dysfunction Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
21 %
Genes
46 %
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CASP8, STAT3, KRAS, NRAS, MAGT1, SH2D1A, FAS, XIAP, FASLG, CASP10, ITK, PIK3CD, LRBA, FADD, CTLA4, PRKCD
Specificity
7 %
Genes
10 %
Autoimmune lymphoproliferative syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

PRKCD
Specificity
100 %
Genes
10 %
Immune dysregulation Panel.

By CeGaT GmbH in Germany.

CASP8, AP3B1, AIRE, PRF1, TREX1, FOXP3, LYST, SH2D1A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, PRKCD, CARD11, IL2RA, ITCH , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
10 %
Invitae Common Variable Immunodeficiency Panel.

By Invitae in United States.

STAT3, TNFRSF13B, RAC2, PIK3CD, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, TNFRSF13C, PRKCD, PLCG2, IL21, IL21R, TNFSF12
Specificity
42 %
Genes
64 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)

View the complete list with 53 more genes
Specificity
10 %
Genes
64 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
4 %
Genes
64 %
Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel.

By Invitae in United States.

CASP8, MAGT1, FAS, FASLG, ITK, PIK3CD, CTLA4, PRKCD
Specificity
13 %
Genes
10 %
PRKCD.

By Fulgent Genetics Fulgent Genetics in United States.

PRKCD
Specificity
100 %
Genes
10 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
3 %
Genes
73 %
Autoimmune Lymphoproliferative Syndrome Type III, Sequencing PRKCD Gene.

By Reference Laboratory Genetics in Spain.

PRKCD
Specificity
100 %
Genes
10 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
10 %
NFKB2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

NFKB2
Specificity
100 %
Genes
10 %
Immunodeficiency, common variable (sequence analysis of NFKB2 gene).

By CGC Genetics in Portugal.

NFKB2
Specificity
100 %
Genes
10 %
Immunodeficiency, common variable (sequence analysis of NFKB2 gene).

By CGC Genetics in Portugal.

NFKB2
Specificity
100 %
Genes
10 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
3 %
Genes
82 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
2 %
Genes
64 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
2 %
Genes
64 %
Antibody deficiencies Panel.

By CeGaT GmbH in Germany.

UNG, RTEL1, BTK, TCF4, DKC1, TNFRSF13B, AICDA, CD40, CD40LG, LRBA, NFKB2, PIK3R1, CD19, CR2, CD81, ICOS, TNFRSF13C, MS4A1, LRRC8A, BLNK , (...)

View the complete list with 8 more genes
Specificity
33 %
Genes
82 %
NFKB2.

By Fulgent Genetics Fulgent Genetics in United States.

NFKB2
Specificity
100 %
Genes
10 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
10 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
28 %
ICOS Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ICOS
Specificity
100 %
Genes
10 %
ICOS Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ICOS
Specificity
100 %
Genes
10 %
ICOS. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ICOS
Specificity
100 %
Genes
10 %
Immunodeficiency, common variable 1 (sequence analysis of ICOS gene).

By CGC Genetics in Portugal.

ICOS
Specificity
100 %
Genes
10 %
ICOS gene.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute in United States.

ICOS
Specificity
100 %
Genes
10 %
B cell pathology panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

UNG, BTK, TNFRSF13B, AICDA, CD40, CD40LG, CD19, CD81, ICOS, TNFRSF13C, BLNK, CD79A, IGLL1, CD79B
Specificity
36 %
Genes
46 %
Immunodeficiency common variable 1.

By Centogene AG - the Rare Disease Company in Germany.

ICOS
Specificity
100 %
Genes
10 %
Common variable Immunodefiency 1.

By Department of Clinical Immunology Odense University Hospital in Denmark.

ICOS
Specificity
100 %
Genes
10 %
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

TAP1, AK2, ADA, IL2RG, PNP, DCLRE1C, MAGT1, DOCK8, JAK3, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, ITK, RAC2, NHEJ1, LIG4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
10 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
10 %
Invitae Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

TAP1, MAGT1, DOCK8, CD40LG, ZAP70, ITK, RAC2, LRBA, CD27, CIITA, RFX5, RFXANK, RFXAP, STK4, ICOS, CARD11, B2M, IL21, IL21R, MALT1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
10 %
Common Variable Immunodeficiency: ICOS gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ICOS
Specificity
100 %
Genes
10 %
Common variable immunodeficiency.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TNFRSF13B, CD19, CR2, CD81, ICOS, TNFRSF13C, MS4A1, NFKB1, IL21
Specificity
89 %
Genes
73 %
Early Onset Inflammatory Bowel Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
10 %
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
10 %
ICOS.

By Fulgent Genetics Fulgent Genetics in United States.

ICOS
Specificity
100 %
Genes
10 %
Common variable immunodeficiency.

By Bioarray in Spain.

ICOS
Specificity
100 %
Genes
10 %
Immune Report Card.

By OmniSeq, Inc. in United States.

STAT1, TGFB1, FOXP3, CCL2, CSF1R, CD40, CD40LG, CD27, CTLA4, ICOS, MS4A1, DDX58, IL10, IFNG, IL1B, CD8A, TNFSF4, TNF, CD4, CD244 , (...)

View the complete list with 27 more genes
Specificity
5 %
Genes
19 %
COMMON VARIABLE IMMUNODEFICIENCY DUE TO AN INTRINSIC T-CELL DEFECT.

By Laboratorio de Genetica Clinica SL in Spain.

ICOS, MS4A1
Specificity
100 %
Genes
19 %
Common Variable Immune Deficiency Type 1 , Sequencing ICOS Gene.

By Reference Laboratory Genetics in Spain.

ICOS
Specificity
100 %
Genes
10 %
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

STAT1, TGFB1, STAT3, IKBKG, GATA2, DCLRE1C, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, RAG1, AKT1, CXCR4, PIK3CD, NFKBIA, CTLA4, IL17F , (...)

View the complete list with 21 more genes
Specificity
20 %
Genes
73 %
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes.

By Reference Laboratory Genetics in Spain.

TGFB1, CYBA, IL2RG, IKBKG, TINF2, CYBB, WAS, GATA3, FOXP1, FOXP3, DKC1, ABCB1, TERC, TERT, SH2D1A, NCF2, NCF4, WRAP53, NOD2, CD40LG , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
10 %
CD19 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CD19
Specificity
100 %
Genes
10 %
CD19 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CD19
Specificity
100 %
Genes
10 %
Immunodeficiency common variable type 3.

By Centogene AG - the Rare Disease Company in Germany.

CD19
Specificity
100 %
Genes
10 %
CD19.

By Fulgent Genetics Fulgent Genetics in United States.

CD19
Specificity
100 %
Genes
10 %
COMMON VARIABLE IMMUNODEFICIENCY DUE TO AN INTRINSIC B-CELL DEFECT.

By Laboratorio de Genetica Clinica SL in Spain.

CD19, CD81
Specificity
100 %
Genes
19 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
19 %
Common Variable Immunodeficiency Syndrome (CVID): TNFRSF13B (TACI) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

TNFRSF13B
Specificity
100 %
Genes
10 %
Common Variable Immunodeficiency Syndrome (CVID): TNFRSF13B (TACI) (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

TNFRSF13B
Specificity
100 %
Genes
10 %
TNFRSF13B Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TNFRSF13B
Specificity
100 %
Genes
10 %
TNFRSF13B Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TNFRSF13B
Specificity
100 %
Genes
10 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, ADA, BLM, ATM, NBN, PRF1, WAS, NF1, MAGT1, DOCK8, SH2D1A, IKZF1, TNFRSF13B, FAS, FASLG, CASP10, STXBP2, ITK, PIK3CD , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
10 %
TACI-Associated Common Variable Immunodeficiency (TNFRSF13B) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

TNFRSF13B
Specificity
100 %
Genes
10 %
Immunoglobulin A deficiency (sequence analysis of TNFRSF13B gene).

By CGC Genetics in Portugal.

TNFRSF13B
Specificity
100 %
Genes
10 %
Immunodeficiency, common variable, 2 (sequence analysis of TNFRSF13B/TACI gene).

By CGC Genetics in Portugal.

TNFRSF13B
Specificity
100 %
Genes
10 %
Immunodeficiency, common variable, 2 (sequence analysis of TNFRSF13B/TACI gene).

By CGC Genetics in Portugal.

TNFRSF13B
Specificity
100 %
Genes
10 %
Common Variable Immune Deficiency/IgA Deficiency via TNFRSF13B Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TNFRSF13B
Specificity
100 %
Genes
10 %
Immunodeficiency common variable type 2.

By Centogene AG - the Rare Disease Company in Germany.

TNFRSF13B
Specificity
100 %
Genes
10 %
Common variable Immunodefiency.

By Department of Clinical Immunology Odense University Hospital in Denmark.

TNFRSF13B
Specificity
100 %
Genes
10 %
Common Variable Immunodeficiency: TNFRSF13B gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TNFRSF13B
Specificity
100 %
Genes
10 %
TNFRSF13B.

By Fulgent Genetics Fulgent Genetics in United States.

TNFRSF13B
Specificity
100 %
Genes
10 %
COMMON VARIABLE IMMUNODEFICIENCY DUE TO TNFR DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

TNFRSF13B, TNFRSF13C
Specificity
100 %
Genes
19 %
Common Variable Immune Deficiency Type 2 , Sequencing TNFRSF13B Gene.

By Reference Laboratory Genetics in Spain.

TNFRSF13B
Specificity
100 %
Genes
10 %
CD81 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CD81
Specificity
100 %
Genes
10 %
CD81 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CD81
Specificity
100 %
Genes
10 %
Immunodeficiency common variable type 6.

By Centogene AG - the Rare Disease Company in Germany.

CD81
Specificity
100 %
Genes
10 %
CD81.

By Fulgent Genetics Fulgent Genetics in United States.

CD81
Specificity
100 %
Genes
10 %
Immunodeficiency, common variable (sequence analysis of NFKB1 gene).

By CGC Genetics in Portugal.

NFKB1
Specificity
100 %
Genes
10 %
Immunodeficiency, common variable (sequence analysis of NFKB1 gene).

By CGC Genetics in Portugal.

NFKB1
Specificity
100 %
Genes
10 %
NFKB1.

By Fulgent Genetics Fulgent Genetics in United States.

NFKB1
Specificity
100 %
Genes
10 %
TNFRSF13C Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TNFRSF13C
Specificity
100 %
Genes
10 %
TNFRSF13C Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TNFRSF13C
Specificity
100 %
Genes
10 %
Immunodeficiency, common variable, 4 (sequence analysis of TNFRSF13C gene).

By CGC Genetics in Portugal.

TNFRSF13C
Specificity
100 %
Genes
10 %
Immunodeficiency, common variable, 4 (sequence analysis of TNFRSF13C gene).

By CGC Genetics in Portugal.

TNFRSF13C
Specificity
100 %
Genes
10 %
TNFRSF13C.

By Fulgent Genetics Fulgent Genetics in United States.

TNFRSF13C
Specificity
100 %
Genes
10 %
MS4A1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MS4A1
Specificity
100 %
Genes
10 %
MS4A1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MS4A1
Specificity
100 %
Genes
10 %
MS4A1.

By Fulgent Genetics Fulgent Genetics in United States.

MS4A1
Specificity
100 %
Genes
10 %
CD21 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CR2
Specificity
100 %
Genes
10 %
CR2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CR2
Specificity
100 %
Genes
10 %
Immunodeficiency common variable 7 (sequence analysisof CR2 gene).

By CGC Genetics in Portugal.

CR2
Specificity
100 %
Genes
10 %
Immunodeficiency, common variable, 7.

By Centogene AG - the Rare Disease Company in Germany.

CR2
Specificity
100 %
Genes
10 %
Combined immunodeficiencies Panel.

By CeGaT GmbH in Germany.

TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
10 %
CR2.

By Fulgent Genetics Fulgent Genetics in United States.

CR2
Specificity
100 %
Genes
10 %
Complement System Disorder Panel.

By Blueprint Genetics in Finland.

CCDC39, PIGA, OFD1, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
10 %

Alternate names

Immunodeficiency, Common Variable, 1; Cvid1 Is also known as antibody deficiency due to icos defect;cvid; idiopathic immunoglobulin deficiency; primary antibody deficiency; primary hypogammaglobulinemia.



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