Abstract
To report the laboratory investigation of a case of severe combined immunodeficiency (SCID) with maternal T-cell engraftment, focusing on the interference of human leukocyte antigen (HLA) typing by blood chimerism. HLA typing was performed with three different methods, including sequence-specific primer (SSP), sequence-specific oligonucleotide, and Sanger sequencing on peripheral blood leukocytes and buccal cells, from a 3-month-old boy and peripheral blood leukocytes from his parents. Short tandem repeat (STR) testing was performed in parallel. HLA typing of the patient's peripheral blood leukocytes using the SSP method demonstrated three different alleles for each of the HLA-B and HLA-C loci, with both maternal alleles present at each locus. Typing results from the patient's buccal cells showed a normal pattern of inheritance for paternal and maternal haplotypes. STR enrichment testing of the patient's CD3+ T lymphocytes and CD15+ myeloid cells confirmed maternal T-cell engraftment, while the myeloid cell profile matched the patient's buccal cells. Maternal T-cell engraftment may interfere with HLA typing in patients with SCID. Selection of the appropriate typing methods and specimens is critical for accurate HLA typing and i...Continue Reading
References
Apr 15, 1994·Pharmacy World & Science : PWS·M Gross
Jan 28, 1999·Human Genetics·S D FugmannK Schwarz
Jan 3, 2001·Blood·A VillaK Schwarz
Sep 6, 2001·Blood·S M MüllerW Friedrich
Nov 15, 2003·Blood·Joseph L RobertsRebecca H Buckley
Dec 16, 2006·Blood·Joseph L RobertsRebecca H Buckley
Sep 6, 2007·Blood·Stephanie J LeeClaudio Anasetti
Jun 2, 2012·Tissue Antigens·H Erlich
Sep 12, 2012·BioTechniques·Colin J DavidsonEdgar Schreiber
Oct 23, 2012·BioTechniques·Colin J DavidsonEdgar Schreiber
Dec 21, 2012·Cytotherapy·Hanna RennertTsiporah Shore
Jun 12, 2013·Nucleic Acids Research·Chang LiuJohn D Pfeifer
Oct 22, 2013·Blood·Mary EapenUNKNOWN Center for International Blood and Marrow Transplant Research, Netcord, Eurocord, and the European Group for Blood and Marro
Jul 31, 2014·The New England Journal of Medicine·Sung-Yun PaiRichard J O'Reilly
Aug 26, 2014·British Journal of Haematology·Jordan R ClarkDavid Barnett
Sep 16, 2014·Bone Marrow Transplantation·L CastagnaA Santoro
Sep 30, 2014·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·Antonio Di StasiStefan O Ciurea
Oct 18, 2014·Pediatric Hematology and Oncology·Akihisa SawadaMasami Inoue
Dec 3, 2014·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·Seung-Hwan ShinJe-Hwan Lee
Citations
Feb 20, 2020·Journal of Clinical Immunology·Elina A TuovinenMikko R J Seppänen
May 26, 2021·The Journal of Allergy and Clinical Immunology. in Practice·Vijaya KnightNicholas L Rider
Jan 15, 2017·Microbiology Spectrum·Jonathan M Austyn
Aug 6, 2021·Nature Communications·Ina Annelies StelzerPetra Clara Arck
Aug 19, 2021·Immunogenetics·Wenjun MouJingang Gui