Immunodeficiency, Common Variable, 8, With Autoimmunity; Cvid8

Description

Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency, Common Variable, 8, With Autoimmunity; Cvid8

  • Growth delay
  • Failure to thrive
  • Ptosis
  • Anemia
  • Neoplasm
  • Splenomegaly
  • Diarrhea
  • Congestive heart failure
  • Thrombocytopenia
  • Pneumonia
And another 54 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, 8, With Autoimmunity; Cvid8 Recommended genes panels

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

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

LRBA
Specificity
100 %
Genes
100 %
LRBA Deletion/duplication analysis.

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

LRBA
Specificity
100 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
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
3 %
Genes
100 %
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
5 %
Genes
100 %
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
5 %
Genes
100 %
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
5 %
Genes
100 %
Common variable immunodeficiency type 8 (sequence analysis of LRBA gene).

By CGC Genetics in Portugal.

LRBA
Specificity
100 %
Genes
100 %
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
100 %
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
1 %
Genes
100 %
ALPS/autoimmunity panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CASP8, AIRE, KRAS, NRAS, FOXP3, FAS, FASLG, CASP10, LRBA, FADD, IL2RA, ITCH
Specificity
9 %
Genes
100 %
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
1 %
Genes
100 %
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
1 %
Genes
100 %
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
4 %
Genes
100 %
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
100 %
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
6 %
Genes
100 %
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
2 %
Genes
100 %
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
100 %
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
100 %
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
1 %
Genes
100 %
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
100 %
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
100 %
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
100 %
LRBA.

By Fulgent Genetics Fulgent Genetics in United States.

LRBA
Specificity
100 %
Genes
100 %
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
1 %
Genes
100 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %

Alternate names

Immunodeficiency, Common Variable, 8, With Autoimmunity; Cvid8 Is also known as ;cid due to lrba deficiency.



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