title: A case of maternal-foetal chimerism identified during routine histocompatibility testing for hematopoietic stem cell transplantation.
abstract: This report describes a case of maternal-foetal chimerism identified in a boy diagnosed with SCID, who underwent HLA testing in preparation for HSCT. The first analysis was carried out on DNA from peripheral blood and included HLA-A, HLA-B, HLA-DRB1 typing using PCR-SSO. The patient's HLA-B typing results were noninterpretable. All samples were re-typed for HLA-B using PCR-SSP, again resulting in noninterpretable typing of patient's HLA-B. In both cases, several weak positive probes/reactions interfered with the interpretation when using commercial software. Next round of HLA typing, using PCR-SSP and PCR-SSO methods, included the patient's bone marrow sample and HLA-C locus, but interpretation was again not possible. The PCR-STR analysis performed on both peripheral blood and bone marrow samples revealed seven STRs for which two maternal and one paternal allele were detected. Retrospective manual interpretation of HLA-B and HLA-C typing revealed that weak positive reactions were indeed owed to paternal HLA-B and HLA-C alleles and that the patient had both maternal and one paternal allele. Retyping of HLA-B and HLA-C loci and STR analysis on the patient's buccal cells sample revealed the expected one maternal/one paternal allele pattern. In summary, the combination of several different typing methods and manual interpretation were necessary to obtain the patient's HLA typing results.
authors.affiliation: Tissue Typing Center, Clinical Department for Transfusion Medicine ad Transplantation Biology, University Hospital Centre Zagreb, Zagreb, Croatia.
authors.forename: Z
authors.initials: Z
authors.lastname: Grubic
authors.affiliation: Tissue Typing Center, Clinical Department for Transfusion Medicine ad Transplantation Biology, University Hospital Centre Zagreb, Zagreb, Croatia.
authors.forename: K
authors.initials: K
authors.lastname: Stingl Jankovic
authors.affiliation: Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
authors.forename: J
authors.initials: J
authors.lastname: Kelecic
authors.affiliation: Clinical Unit for Cellular Immunodiagnostics, Clinical Department of Laboratory Diagnosis, University Hospital Centre Zagreb, Zagreb, Croatia.
authors.forename: D
authors.initials: D
authors.lastname: Batinic
authors.affiliation: Clinical Unit for Cellular Immunodiagnostics, Clinical Department of Laboratory Diagnosis, University Hospital Centre Zagreb, Zagreb, Croatia.
authors.forename: K
authors.initials: K
authors.lastname: Dubravcic
authors.affiliation: Tissue Typing Center, Clinical Department for Transfusion Medicine ad Transplantation Biology, University Hospital Centre Zagreb, Zagreb, Croatia.
authors.forename: R
authors.initials: R
authors.lastname: Zunec
mesh_terms: D000483:Alleles; D001853:Bone Marrow / Q000276:immunology; D046528:Chimerism; D015234:HLA-A Antigens / Q000276:immunology; D015235:HLA-B Antigens / Q000235:genetics / Q000276:immunology; D015236:HLA-C Antigens / Q000276:immunology; D059811:HLA-DRB1 Chains / Q000276:immunology; D018380:Hematopoietic Stem Cell Transplantation; D006650:Histocompatibility Testing; D054502:Histocompatibility, Maternal-Fetal / Q000276:immunology*; D006801:Humans; D007223:Infant; D008297:Male
chemical_list: D015234:HLA-A Antigens; D015235:HLA-B Antigens; D015236:HLA-C Antigens; D059811:HLA-DRB1 Chains