Immunodeficiency With Hyper-igm, Type 2; Higm2

Description

Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections.For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Immunodeficiency With Hyper-igm, Type 2; Higm2

  • Immunodeficiency
  • Lymphadenopathy
  • Recurrent bacterial infections
  • IgA deficiency
  • IgG deficiency
  • Recurrent infection of the gastrointestinal tract
  • Impaired Ig class switch recombination
  • Recurrent upper and lower respiratory tract infections
  • Opportunistic infection

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 2; Higm2 Is also known as hyper-igm syndrome 2.

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 2; Higm2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hyper IgM Syndrome (HIGM): (AICDA for HIGM2) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

AICDA
Specificity
100 %
Genes
100 %
Hyper IgM Syndrome (HIGM): (AICDA for HIGM2) (Known Mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

AICDA
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 %
Hyper IgM Syndrome (HIGM): Two-gene Profile (AICDA, UNG) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

UNG, AICDA
Specificity
50 %
Genes
100 %
Hyper IgM Syndrome (HIGM): Three-gene Profile (AICDA, UNG, CD40) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CD40, UNG, AICDA
Specificity
34 %
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 %
AICDA Gene Sequencing.

By GeneDx (United States).

AICDA
Specificity
100 %
Genes
100 %
AICDA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

AICDA
Specificity
100 %
Genes
100 %

You can get up to 28 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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