Ectodermal Dysplasia, Anhidrotic, With T-cell Immunodeficiency, Autosomal Dominant

Description

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Clinical Features

Top most frequent phenotypes and symptoms related to Ectodermal Dysplasia, Anhidrotic, With T-cell Immunodeficiency, Autosomal Dominant

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections
  • Hepatosplenomegaly

And another 23 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.

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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Ectodermal Dysplasia, Anhidrotic, With T-cell Immunodeficiency, Autosomal Dominant Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NFKBIA Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

NFKBIA
Specificity
100 %
Genes
100 %
NFKBIA Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

NFKBIA
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 %
Hypohidrotic ectodermal dysplasia with immunodeficiency (sequence analysis of NFKBIA gene).

By CGC Genetics (Portugal).

NFKBIA
Specificity
100 %
Genes
100 %
Hyper IgM Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SH2D1A, BTK, CD40, CD40LG, UNG, AICDA, MRE11, NBN, NFKBIA, ATM, PIK3CD
Specificity
10 %
Genes
100 %
IKBa Gene.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute (United States).

NFKBIA
Specificity
100 %
Genes
100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH (Germany).

BCS1L, SNRPE, SOX18, ST14, TRPS1, IFT122, WNT10A, EDARADD, SHOC2, LPAR6, APCDD1, TP63, MPLKIP, UBR1, BANF1, CDH3, PORCN, CDSN, KCTD1, WDR19 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Defects in innate immunity Panel.

By CeGaT GmbH (Germany).

STAT1, TBK1, TLR3, TRAF3, TRAF3IP2, UNC93B1, CARD9, IL17F, TIRAP, IRAK4, TMC6, TICAM1, TMC8, CXCR4, IL17RA, APOL1, MCM4, MYD88, NFKBIA
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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