Summary
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.
Similar content being viewed by others
Article PDF
References
Ammann, A.J. and Hong, R. 1989. Disorders of the T cell system. InImmunologic Disorders in Infants and Children, Stiehm, E.R., ed., W.B. Saunders Company, Philadelphia, pp. 257–315
de Saint, Basile, G., Arveiler, B., Oberle, I., Malcolm, S., Levinsky, R.J., Lau, Y.L., Hofker, M., Debre, M., Fischer, A., Griscelli, C. and Mandel, J.L. 1987. Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11–q13.Proc. Natl. Acad. Sci. U.S.A. 84: 7576–7579.
Friedrich, W., Goldmann, S.F., Vetter, U., Fliedner, T.M., Heymer, B., Peter, H.H., Reisner, Y. and Kleinhauer, E. 1984. Immunoreconstitution in severe combined immunodeficiency after transplantation of HLA-haploidentical, T-cell-depleted bone marrow.Lancet 1: 761–764
Gelfand, E.W. and Dosch, H.-M. 1983. Diagnosis and classification of severe combined immunodeficiency disease.Birth Defects Orig. Artic. Ser. 19: 65–72.
Minegishi, M., Tsuchiya, S., Imaizumi, M., Yamaguchi, Y., Goto, Y., Tamura, M. Konno, T. and Tada, K. 1985. Successful transplantation of soybean agglutinin-fractionated, histoin-compatible, maternal marrow in a patient with severe combined immunodeficiency and BCG infection.Eur. J. Pediatr. 143: 291–294.
Minegishi, M., Tsuchiya, S., Minegishi, N., Yoshie, O., Nakamura, M. and Konno, T. 1988. Characterization of a precursor T-cell line (THP-6) with rearranged T-cell receptor β-chain gene.Leuk. Res. 12: 227–232.
Puck, J.M., Nussbaum, R.L., Smead, D.L. and Conley, M.E. 1989. X-linked severe combined immunodeficiency: localization within the region Xq13.1–q21.1 by linkage and deletion analysis.Am. J. Hum. Genet. 44: 724–730.
Reisner, Y., Kapoor, N., Kirkpatrick, D., Pollack, M.S., Cunningham-Rundles, S., Dupont, B., Hodes, M.Z., Good, R.A. and O'Reilly, R.J. 1983. Transplantation for severe combined immunodeficiency with HLA-A, B, D, DR incompatible parental marrow cells fractionated by soy bean agglutinin and sheep red blood cells.Blood. 61: 341–348.
Rosen, F.S., Wedgewood, R.J., Eibl, M., Aiuti, F., Cooper, M.D., Good, R.A., Griscelli, C., Hanson, L.A., Hitzig, W.H., Matsumoto, S., Seligman, M., Smoothill, J.F. and Waldman, T.A. 1986.Clin. Immunol. Immunopathol. 40: 166–196.
Spits, H., Borst, J., Tax, W., Capel, P., Terhorst, C. and de Vries, J. 1985. Characteristics of a monoclonal antibody (WT31) that recognizes a common epitope on the human T cell receptor for antigen.J. Immunol. 135: 1922–1928.
Tsuchiya, S., Konno, T., Tada, K. and Ono, Y. 1980. Epstein-Barr virus-induced lymphoblastoid cell lines from patients with primary immunodeficiency diseases.Scand. J. Immunol. 11: 155–162.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Minegishi, M., Tsuchiya, S., Yamaguchi, Y. et al. A Japanese family pedigree of patients with severe combined immunodeficiency disease with X-linked inheritance. Jap J Human Genet 36, 137–142 (1991). https://doi.org/10.1007/BF01876575
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01876575