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Article

IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.

Journal of clinical immunology - 1 Jul 2018

Moriya Kunihiko, Sasahara Yoji, Ohnishi Hidenori, Kawai Tomoki, Kanegane Hirokazu

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Identifiers

PMID: 29948576
DOI: 10.1007/s10875-018-0522-y

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IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.PMID 29948576Read ↗

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.Semantic proximity Read ↗

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Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiencySemantic proximity Read ↗

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