title: Maternal T-Cell Engraftment Interferes With Human Leukocyte Antigen Typing in Severe Combined Immunodeficiency.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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 immunologic assessment before allogeneic hematopoietic stem cell transplantation.
authors.affiliation: From the Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology HLA Laboratory.
authors.forename: Chang
authors.initials: C
authors.lastname: Liu
authors.affiliation: HLA Laboratory.
authors.forename: Brian
authors.initials: B
authors.lastname: Duffy
authors.affiliation: Department of Pediatrics, and.
authors.forename: Jeffrey J
authors.initials: JJ
authors.lastname: Bednarski
authors.affiliation: Department of Pediatrics, and.
authors.forename: Cecelia
authors.initials: C
authors.lastname: Calhoun
authors.affiliation: Molecular Diagnostic Laboratory, Barnes-Jewish Hospital, St Louis, MO.
authors.forename: Lindsay
authors.initials: L
authors.lastname: Lay
authors.affiliation: Molecular Diagnostic Laboratory, Barnes-Jewish Hospital, St Louis, MO.
authors.forename: Barrett
authors.initials: B
authors.lastname: Rundblad
authors.affiliation: From the Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology Molecular Diagnostic Laboratory, Barnes-Jewish Hospital, St Louis, MO.
authors.forename: Jacqueline E
authors.initials: JE
authors.lastname: Payton
authors.affiliation: From the Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology HLA Laboratory Department of Surgery, Washington University School of Medicine, St Louis, MO; and\
authors.forename: Thalachallour
authors.initials: T
authors.lastname: Mohanakumar
mesh_terms: D000483:Alleles; D046528:Chimerism; D006680:HLA Antigens / Q000276:immunology; D015235:HLA-B Antigens / Q000235:genetics* / Q000276:immunology; D015236:HLA-C Antigens / Q000235:genetics* / Q000276:immunology; D006239:Haplotypes; D018380:Hematopoietic Stem Cell Transplantation; D006650:Histocompatibility Testing; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D007962:Leukocytes / Q000276:immunology; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009061:Mouth Mucosa / Q000473:pathology; D017422:Sequence Analysis, DNA; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000276:immunology / Q000628:therapy; D013601:T-Lymphocytes / Q000276:immunology / Q000473:pathology
chemical_list: D006680:HLA Antigens; D015235:HLA-B Antigens; D015236:HLA-C Antigens
keywords: HLA typing; Maternal T-cell engraftment; Sanger sequencing; Sequence-specific oligonucleotide; Sequence-specific primer; Severe combined immunodeficiency; Short tandem repeat
references.citation: Bone Marrow Transplant. 2014 Dec;49(12):1475-80
references.pmid: 25222502
references.citation: Blood. 2007 Dec 15;110(13):4576-83
references.pmid: 17785583
references.citation: Blood. 2001 Sep 15;98(6):1847-51
references.pmid: 11535520
references.citation: Blood. 2004 Mar 15;103(6):2009-18
references.pmid: 14615376
references.citation: Immunodeficiency. 1994;5(2):141-57
references.pmid: 8032366
references.citation: Biol Blood Marrow Transplant. 2015 Feb;21(2):342-9
references.pmid: 25459640
references.citation: N Engl J Med. 2014 Jul 31;371(5):434-46
references.pmid: 25075835
references.citation: Biol Blood Marrow Transplant. 2014 Dec;20(12):1975-81
references.pmid: 25263628
references.citation: Blood. 2007 Apr 15;109(8):3198-206
references.pmid: 17170122
references.citation: Pediatr Hematol Oncol. 2014 Nov;31(8):754-64
references.pmid: 25325678
references.citation: Br J Haematol. 2015 Jan;168(1):26-37
references.pmid: 25145701
references.citation: Nucleic Acids Res. 2013 Aug;41(14):e142
references.pmid: 23748956
references.citation: Hum Genet. 1998 Dec;103(6):730-1
references.pmid: 9921912
references.citation: Blood. 2001 Jan 1;97(1):81-8
references.pmid: 11133745
references.citation: Tissue Antigens. 2012 Jul;80(1):1-11
references.pmid: 22651253
references.citation: Biotechniques. 2012 Sep;53(3):182-8
references.pmid: 22963480
references.citation: Cytotherapy. 2013 Mar;15(3):391-5
references.pmid: 23253437
references.citation: Blood. 2014 Jan 2;123(1):133-40
references.pmid: 24141369