Immunodeficiency, Common Variable, 6; Cvid6

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency, Common Variable, 6; Cvid6

  • Hepatomegaly
  • Renal insufficiency
  • Immunodeficiency
  • Thrombocytopenia
  • Recurrent respiratory infections
  • Arthralgia
  • Proteinuria
  • Skin rash
  • Decreased antibody level in blood
  • Recurrent bacterial infections

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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, 6; Cvid6 Is also known as antibody deficiency due to cd81 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, 6; Cvid6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CD81 Deletion/duplication analysis.

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

CD81
Specificity
100 %
Genes
100 %
CD81 Sequencing.

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

CD81
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
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
Specificity
1 %
Genes
100 %
B cell pathology panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

BTK, CD40, CD40LG, UNG, AICDA, BLNK, CD19, CD79A, CD79B, CD81, TNFRSF13C, TNFRSF13B, ICOS, IGLL1
Specificity
8 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
Immunodeficiency common variable type 6.

By Centogene AG - the Rare Disease Company (Germany).

CD81
Specificity
100 %
Genes
100 %

You can get up to 7 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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