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ectodermal dysplasia and immunodeficiency 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectodermal dysplasia and immunodeficiency 2

MONDO:0012806

Also known as:EPAID2ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant

Overview

GeneticsAutosomal dominant · NFKBIA (chr 14)

OnsetINFANTILE

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Enlarged liver (hepatomegaly), Failure to thrive, Dry skin, and Sparse scalp hair and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	4	Recurrent infection of the gastrointestinal tract, Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NFKBIA encodes NFKB inhibitor alpha (317 aa). Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localization signals. Highest expression in Lung (497.5 TPM) and Nerve Tibial (450.8 TPM).

Ectodermal dysplasia and immunodeficiency 2 is caused by mutations in the NFKBIA gene on chromosome 14.

The NFKBIA protein participates in NFKBIA F2_M37del pathway.

NFKBIA is classified as a druggable target (Clinically Actionable and Druggable Genome categories) with score 4.4.

Diagnosis

Genetic testing for NFKBIA is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ectodermal dysplasia and immunodeficiency 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ectodermal dysplasia and immunodeficiency 2.

3 publications have been identified in PubMed for ectodermal dysplasia and immunodeficiency 2. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Epidemiology / Natural History (33%).

Recent Publications

Xu Y (2025). [PMID: 39916852](https://pubmed.ncbi.nlm.nih.gov/39916852/). *Heliyon*. [Diagnostic / Biomarker]
Morandini AC (2025). [PMID: 40083426](https://pubmed.ncbi.nlm.nih.gov/40083426/). *Front Pediatr*. [Review / Meta-Analysis]
Butcher C (2024). [PMID: 39126172](https://pubmed.ncbi.nlm.nih.gov/39126172/). *Am J Med Genet A*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612132

GARD

Genetic and Rare Diseases Info Center

GARD:15542

Questions for Your Care Team

→Should I pursue genetic testing for NFKBIA, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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ectodermal dysplasia and immunodeficiency 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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