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Human IκBα gain of function: a severe and syndromic immunodeficiency
Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patients have been reported since the identification of the first case in 2003. All mutations e...
Gardado en:
| Publicado en: | J Clin Immunol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2017
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5563390/ https://ncbi.nlm.nih.gov/pubmed/28597146 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-017-0400-z |
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