TY - JOUR
T1 - Maternal T-cell engraftment interferes with human leukocyte antigen typing in severe combined immunodeficiency
AU - Liu, Chang
AU - Duffy, Brian
AU - Bednarski, Jeffrey J.
AU - Calhoun, Cecelia
AU - Lay, Lindsay
AU - Rundblad, Barrett
AU - Payton, Jacqueline E.
AU - Mohanakumar, Thalachallour
N1 - Publisher Copyright:
© 2016 American Society for Clinical Pathology. All rights reserved.
PY - 2016/2/1
Y1 - 2016/2/1
N2 - Objectives: 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.
AB - Objectives: 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.
KW - HLA typing
KW - Maternal T-cell engraftment
KW - Sanger sequencing
KW - Sequence-specific oligonucleotide
KW - Sequence-specific primer
KW - Severe combined immunodeficiency
KW - Short tandem repeat
UR - http://www.scopus.com/inward/record.url?scp=84959376253&partnerID=8YFLogxK
U2 - 10.1093/AJCP/AQV079
DO - 10.1093/AJCP/AQV079
M3 - Article
C2 - 26834123
AN - SCOPUS:84959376253
SN - 0002-9173
VL - 145
SP - 251
EP - 257
JO - American journal of clinical pathology
JF - American journal of clinical pathology
IS - 2
ER -