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GTR Home > Conditions/Phenotypes > Ectodermal dysplasia and immunodeficiency 2

Ectodermal dysplasia and immunodeficiency 2

Synonyms
Ectodermal Dysplasia, Anhidrotic, with T-cell Immunodeficiency; Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant

Summary

EDAID2 is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by Boisson et al., 2017). Some patients may also have neutrophilia and autoinflammatory disease, such as liver disease (Tan et al., 2020). Mutations in the NFKBIA gene result in functional impairment of NFKB (see 164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007). For discussion of genetic heterogeneity of ectodermal dysplasia and immune deficiency, see 300291. [from OMIM]

Available tests

26 tests are in the database for this condition.

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Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EDAID2, IKBA, MAD-3, NFKBI, NFKBIA
    Summary: NFKB inhibitor alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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