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

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)137-142
Number of pages6
JournalThe Japanese Journal of Human Genetics
Volume36
Issue number2
DOIs
Publication statusPublished - 1991 Jun 1

Keywords

  • X-linked inheritance
  • bone marrow transplantation
  • family pedigree
  • severe combined immunodeficiency disease

ASJC Scopus subject areas

  • Genetics(clinical)

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