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

Table of contents:

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

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).

Genes related to Ectodermal Dysplasia, Anhidrotic, With T-cell Immunodeficiency, Autosomal Dominant

NFKBIA

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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.

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 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 %
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 Panel complete gene list BCS1L, SNRPE, SOX18, ST14, TRPS1, IFT122, WNT10A, EDARADD, SHOC2, LPAR6, APCDD1, TP63, MPLKIP, UBR1, BANF1, CDH3, PORCN, CDSN, KCTD1, WDR19, LIPH, NECTIN4, CYP26C1, TWIST2, ANTXR1, GTF2H5, DSG4, CTSC, OFD1, GRHL2, KRT74, EDAR, DLX3, WDR35, IFT43, DSP, EDA, FGF10, FGFR2, FGFR3, GJA1, GJB6, HOXC13, HR, KRT14, KRT81, KRT83, KRT85, KRT86, MSX1, NFKBIA, PIGL, PKP1, AXIN2, NECTIN1 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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