Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Table of contents:

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

Genes related to Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

IKBKG

View recommended genes panels

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 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 %
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

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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