Immunodeficiency With Hyper-igm, Type 3; Higm3

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 ).

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.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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
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 %

We have 19 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 GLUCOCORTICOID DEFICIENCY 2; GCCD2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more