Faculty Collaboration Database

Successful treatment with an unrelated-donor bone marrow transplant in an HLA-deficient patient with severe combined immune deficiency ("bare lymphocyte syndrome"). J Pediatr 1990 Feb;116(2):262-5

Date

02/01/1990

Pubmed ID

2299498

DOI

10.1016/s0022-3476(05)82885-9

Scopus ID

2-s2.0-0025099345 (requires institutional sign-in at Scopus site)   33 Citations

Abstract

An 8-month-old white female infant with Pneumocystis carinii pneumonia had a normal blastogenic response to mitogens but no response to a variety of antigens, as well as a poor response to allogeneic cells in one-way mixed lymphocyte culture assays. The patient's mononuclear cells had defective class I (HLA-A, -B, -C) and absent class II (HLA-D) antigen expression on their surface, thus establishing the diagnosis of HLA-deficient severe combined immune deficiency (bare lymphocyte syndrome). Family HLA typing, in vitro stimulation of patient mononuclear cells, and sequence-specific oligonucleotide probe hybridization allowed the patients HLA phenotype to be determined. An unrelated bone marrow donor whose phenotype matched at all but a single A locus was found. The patient was conditioned with busulfan and cyclophosphamide, followed by infusion of T-cell-depleted bone marrow cells. The patient has been infection free with a successful marrow graft documented by HLA typing and chromosomal analysis. Sequence-specific oligonucleotide probe hybridization allows determination of the HLA phenotype in patients with HLA-deficient severe combined immune deficiency which, in turn, makes marrow transplantation an option for the reconstitution of these patients' immune system.

Author List

Casper JT, Ash RA, Kirchner P, Hunter JB, Havens PL, Chusid MJ

Authors

James Casper MD Emeritus Professor in the Pediatrics department at Medical College of Wisconsin
Peter Havens MD Emeritus Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Bone Marrow Transplantation
Female
HLA Antigens
Humans
Immunologic Deficiency Syndromes
Infant
Tissue Donors