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

Internet

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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