Immunodeficiency With Hyper-igm, Type 2; Higm2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Immunodeficiency With Hyper-igm, Type 2; Higm2

AICDA

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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 Panel complete gene list SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM, IGLL1, XIAP, IKBKG, MRE11, MS4A1, NBN, NFKB2, NFKBIA, ATM, PIK3CD, PIK3R1, PLCG2, PRKCD, PTPRC, RAG2 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 %

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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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