Immunodeficiency With Hyper-igm, Type 1; Higm1

Description

HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency With Hyper-igm, Type 1; Higm1

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia
  • Hepatomegaly
  • Dysarthria
  • Fever
  • Diarrhea
  • Splenomegaly

And another 43 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.
No data available about the known clinical features onset.

Alternative names

Immunodeficiency With Hyper-igm, Type 1; Higm1 Is also known as hyper-igm immunodeficiency, x-linked, hyper-igm syndrome 1, ihis, hyper-igm syndrome, xhim, imd3, higm, immunodeficiency 3.

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 With Hyper-igm, Type 1; Higm1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hyper IgM Syndrome (HIGM): (CD40LG [TNFSF5 for HIGM1) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CD40LG
Specificity
100 %
Genes
100 %
Hyper IgM Syndrome (HIGM): (CD40LG [TNFSF5] for HIGM1 (Known mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CD40LG
Specificity
100 %
Genes
100 %
Hyper IgM Syndrome (HIGM): Four-gene Profile (AICDA, UNG, CD40, CD40LG) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CD40, CD40LG, UNG, AICDA
Specificity
25 %
Genes
100 %
CD40LG Sequencing.

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

CD40LG
Specificity
100 %
Genes
100 %
CD40LG Deletion/duplication analysis.

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

CD40LG
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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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