X-linked Mendelian Susceptibility To Mycobacterial Diseases Due To Ikbkg Deficiency

Description

IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including immunodeficiency with hypohidrotic ectodermal dysplasia (OMIM ), together with osteopetrosis and lymphedema (OMIM ) in some patients, and immunodeficiency without ectodermal dysplasia (OMIM ). In contrast with patients with these other forms of X-linked recessive NEMO deficiency, who display a broad susceptibility to infections, infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause. Furthermore, IMD33 patients lack developmental features suggestive of hypohidrotic ectodermal dysplasia. Monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 (see {161561}) production, resulting in impaired IFNG (OMIM ) production. The prognosis of IMD33 patients is variable (review by Al-Muhsen and Casanova, 2008).

Clinical Features

Phenotypes and symptoms related to X-linked Mendelian Susceptibility To Mycobacterial Diseases Due To Ikbkg Deficiency

  • Immunodeficiency
  • Recurrent infections
  • Delayed eruption of teeth
  • Ectodermal dysplasia
  • Lymphedema
  • Recurrent bacterial infections
  • Osteopetrosis
  • Conical tooth
  • Hypohidrotic ectodermal dysplasia

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

X-linked Mendelian Susceptibility To Mycobacterial Diseases Due To Ikbkg Deficiency Is also known as atypical mycobacteriosis, familial, x-linked 1, x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency, immunodeficiency 33, mycobacteriosis, x-linked, amcbx1, x-linked msmd due to ikbkg deficiency, x-linked msmd due to nemo deficie.

Researches and researchers

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X-linked Mendelian Susceptibility To Mycobacterial Diseases Due To Ikbkg Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Incontinentia Pigmenti Common Deletion Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IKBKG
Specificity
100 %
Genes
100 %
Incontinentia Pigmenti Common Deletion Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

IKBKG
Specificity
100 %
Genes
100 %
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

IKBKG
Specificity
100 %
Genes
100 %
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Known Mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

IKBKG
Specificity
100 %
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 %
IKBKG (NEMO) Gene Sequencing (HED).

By GeneDx (United States).

IKBKG
Specificity
100 %
Genes
100 %
IKBKG (NEMO) Gene Sequencing (IP).

By GeneDx (United States).

IKBKG
Specificity
100 %
Genes
100 %
IKBKG. Chromosome X inactivation analysis.

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

IKBKG
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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