Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Hemolytic anemia
  • Sepsis
  • Ectodermal dysplasia
  • Bronchiectasis
  • Autoimmune hemolytic anemia
  • IgA deficiency
  • IgG deficiency

And another 3 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 Without Anhidrotic Ectodermal Dysplasia Is also known as immunodeficiency, isolated, immunodeficiency, pure.

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 Without Anhidrotic Ectodermal Dysplasia 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 %

You can get up to 46 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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