Immunodeficiency, Common Variable, 12; Cvid12

Description

Common variable immunodeficiency-12 is an autosomal dominant primary immunodeficiency characterized by recurrent infections, mainly respiratory, associated with hypogammaglobulinemia. The disorder shows a highly variable age at onset and highly variable disease severity, even within the same family. Some patients have features of autoimmunity (summary by Fliegauf 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, 12; Cvid12

  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Alopecia
  • Autoimmunity
  • Hemolytic anemia
  • Lymphoma
  • Decreased antibody level in blood
  • Recurrent skin infections

And another 6 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, 12; Cvid12 Is also known as nfkb1 deficiency.

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.


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Immunodeficiency, Common Variable, 12; Cvid12 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 NFKB1 gene).

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

NFKB1
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 %
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 %
NFKB1.

By Fulgent Genetics Fulgent Genetics (United States).

NFKB1
Specificity
100 %
Genes
100 %

We have 4 more panels available in our App

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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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