title: Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency.
abstract: It is commonly accepted that the presence of high amounts of maternal T cells excludes Omenn syndrome (OS) in severe combined immunodeficiency (SCID). We report a SCID patient with a novel mutation in the recombination activating gene (RAG)1 gene (4-BP DEL.1406 TTGC) who presented with immunodeficiency and OS. Several assays, including representatives of specific T cell receptors (TCR), Vβ families and TCR-γ rearrangements, were performed in order to understand more clearly the nature and origin of the patient's T cells. The patient had oligoclonal T cells which, based on the patient-mother human leucocyte antigen (HLA)-B50 mismatch, were either autologous or of maternal origin. These cell populations were different in their numbers of regulatory T cells (T(reg)) and the diversity of TCR repertoires. This is the first description of the co-existence of large amounts of clonal expanded autologous and transplacental-acquired maternal T cells in RAG1-deficient SCID.
authors.affiliation: 'Sackler' Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Cancer Research Center and the Hematology Laboratory, Jeffrey Modell Foundation (JMF) Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Pediatric Immunology Service, Jeffrey Modell Foundation (JMF) Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Lev
authors.forename: A J
authors.initials: AJ
authors.lastname: Simon
authors.forename: J
authors.initials: J
authors.lastname: Ben-Ari
authors.forename: D
authors.initials: D
authors.lastname: Takagi
authors.forename: T
authors.initials: T
authors.lastname: Stauber
authors.forename: L
authors.initials: L
authors.lastname: Trakhtenbrot
authors.forename: E
authors.initials: E
authors.lastname: Rosenthal
authors.forename: G
authors.initials: G
authors.lastname: Rechavi
authors.forename: N
authors.initials: N
authors.lastname: Amariglio
authors.forename: R
authors.initials: R
authors.lastname: Somech
mesh_terms: D060965:Clonal Evolution; D004252:DNA Mutational Analysis; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D016130:Immunophenotyping; D009154:Mutation; D010641:Phenotype; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000235:genetics / Q000378:metabolism; D016692:Receptors, Antigen, T-Cell, gamma-delta / Q000235:genetics / Q000378:metabolism; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000276:immunology*; D016176:T-Lymphocyte Subsets / Q000276:immunology* / Q000378:metabolism*
chemical_list: D018398:Homeodomain Proteins; D016693:Receptors, Antigen, T-Cell, alpha-beta; D016692:Receptors, Antigen, T-Cell, gamma-delta; C064658:RAG-1 protein
keywords: Omenn syndrome; RAG1; SCID; T cell receptor repertoire; maternal engraftment