Immunodeficiency With Hyper-igm, Type 3; Higm3

Table of contents:

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

Description

HIGM3, first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM.For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

Genes related to Immunodeficiency With Hyper-igm, Type 3; Higm3

CD40

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Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency With Hyper-igm, Type 3; Higm3

Failure to thrive
Hepatomegaly
Respiratory distress
Immunodeficiency
Pneumonia
Neutropenia
Decreased antibody level in blood
Recurrent bacterial infections
IgA deficiency
IgG deficiency

And another 5 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 With Hyper-igm, Type 3; Higm3 Is also known as hyper-igm syndrome 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 3; Higm3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hyper IgM Syndrome (HIGM): (CD40 [TNFRSF5] for HIGM3) (Full Gene Sequencing). By Molecular Diagnostic Laboratory University of Alberta (Canada). CD40 Specificity 100 % Genes 100 %
Hyper IgM Syndrome (HIGM): (CD40 [TNFRSF5] for HIGM3) (Known mutation). By Molecular Diagnostic Laboratory University of Alberta (Canada). CD40 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): 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 %
Immunodeficiency with hyper-IgM, type 3 (sequence analysis of CD40 gene). By CGC Genetics (Portugal). CD40 Specificity 100 % Genes 100 %
Immunodeficiency with hyper-IgM, type 3 (sequence analysis of CD40 gene). By CGC Genetics (Portugal). CD40 Specificity 100 % Genes 100 %
Immunodeficiency with hyper-IgM, type 3. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). CD40 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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