A Japanese family pedigree of patients with severe combined immunodeficiency disease with X-linked inheritance.
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.
Minegishi
M
M
Department of Pediatrics, Tohoku University, Sendai, Japan.
Tsuchiya
S
S
Yamaguchi
Y
Y
Sato
T
T
Minegishi
N
N
Konno
T
T
D044466:Asian People / Q000235:genetics; D001402:B-Lymphocytes / Q000276:immunology; D016026:Bone Marrow Transplantation; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D010375:Pedigree; D016511:Severe Combined Immunodeficiency / Q000097:blood / Q000235:genetics* / Q000601:surgery; D014960:X Chromosome