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Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles

Family history is one key in diagnosing inborn errors of immunity (IEI); however, disease status is difficult to determine in deceased relatives. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is one of the hyper IgM syndromes that is caused by a hypomorphic variant in the nuclear fa...

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Detalles Bibliográficos
Autores principales:	Inaba, Satoshi, Aizawa, Yuta, Miwa, Yuki, Imai, Chihaya, Ohnishi, Hidenori, Kanegane, Hirokazu, Saitoh, Akihiko
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8727435/ https://www.ncbi.nlm.nih.gov/pubmed/35003103 http://dx.doi.org/10.3389/fimmu.2021.786164

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