A Japanese family pedigree of patients with severe combined immunodeficiency disease with X-linked inheritance

Masayoshi Minegishi, Shigeru Tsuchiya, Yoshiko Yamaguchi, Tetsuo Sato, Naoko Minegishi, Tasuke Konno

研究成果: Article査読

2 被引用数 (Scopus)

抄録

We described three patients with severe combined immunodeficiency disease (SCID) with B lymphocytes from a single family. Adenosine deaminase and purine nucleoside phosphorylase activities were normal. Two of them received bone marrow transplantation from an HLA haplotype-mismatched mother and an HLA-identical sibling, respectively, with successful immunological reconstitution. Another patient died of severe pneumonia. X-linked inheritance was suggested through the analysis of the pedigree extending four generations. This is probably the largest SCID kindred reported in Japan.

本文言語English
ページ(範囲)137-142
ページ数6
ジャーナルThe Japanese Journal of Human Genetics
36
2
DOI
出版ステータスPublished - 1991 6

ASJC Scopus subject areas

  • Genetics(clinical)

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