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).
Genes related to Immunodeficiency With Hyper-igm, Type 1; Higm1
- CD40LG
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.
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 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.Immunodeficiency With Hyper-igm, Type 1; Higm1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Molecular Diagnostic Laboratory University of Alberta (Canada).
CD40LG
Specificity
100 %
Genes
100 % |
![]() By Molecular Diagnostic Laboratory University of Alberta (Canada).
CD40LG
Specificity
100 %
Genes
100 % |
![]() By Molecular Diagnostic Laboratory University of Alberta (Canada).
CD40, CD40LG, UNG, AICDA
Specificity
25 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
You can get up to 37 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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