Immunodeficiency With Hyper-igm, Type 5; Higm5

Description

Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.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 5; Higm5

  • Immunodeficiency
  • Lymphadenopathy
  • Recurrent bacterial infections
  • IgA deficiency
  • IgG deficiency
  • Increased IgM level
  • Recurrent upper and lower respiratory tract infections
  • Impaired Ig class switch recombination
  • Epididymitis

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 5; Higm5 Is also known as hyper-igm syndrome 5.

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 5; Higm5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Hyper IgM Syndrome (HIGM): (UNG for HIGM5) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

UNG
Specificity
100 %
Genes
100 %
Hyper IgM Syndrome (HIGM): (UNG for HIGM5) (Known Mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

UNG
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 %
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 %

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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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