Immunodeficiency, Common Variable, 10; Cvid10

Description

Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).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, 10; Cvid10

  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Immunodeficiency
  • Recurrent infections
  • Alopecia
  • Recurrent respiratory infections
  • Hypoglycemia
  • Nail dystrophy

And another 18 symptoms. If you need more information about this disease we can help you.

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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, 10; Cvid10 Is also known as deficit in anterior pituitary function and variable immunodeficiency, david, immunodeficiency, common variable, with central adrenal insufficiency.

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, 10; Cvid10 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NFKB2 Sequencing.

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

NFKB2
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 %
Humoral dysfunction Del/Dup Panel.

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

SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)

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 (United States).

SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)

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 (United States).

SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Immunodeficiency, common variable (sequence analysis of NFKB2 gene).

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

NFKB2
Specificity
100 %
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 %

You can get up to 11 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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