X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with γc Chain Gene Mutation and Subsequent Genetic Counseling

X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations in the γc chain gene, which encodes an essential component of the cytokine receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9, IL-15, and IL-21. A 13-month-old boy with recurrent inf...

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Detalles Bibliográficos
Autores principales: Jo, Eun-Kyeong, Kumaki, Satoru, Wei, Du, Tsuchiya, Shigeru, Kanegane, Hirokazu, Song, Chang-Hwa, Noh, Ha Young, Kim, Young Ok, Kim, So Yeon, Chung, Hae Yul, Kim, Yoon Ha, Kook, Hoon
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2004
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2822247/
https://www.ncbi.nlm.nih.gov/pubmed/14966353
http://dx.doi.org/10.3346/jkms.2004.19.1.123

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