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).
Genes related to Ectodermal Dysplasia, Anhidrotic, With T-cell Immunodeficiency, Autosomal Dominant
- NFKBIA
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.
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
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 % |
You can get up to 18 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI MARFAN SYNDROME; MFS