Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency

Authors

  • A. Lev,

    1. ‘Sackler’ Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. 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
    3. Pediatric Immunology Service, Jeffrey Modell Foundation (JMF) Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel
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  • A. J. Simon,

    1. ‘Sackler’ Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. 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
    3. Pediatric Immunology Service, Jeffrey Modell Foundation (JMF) Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel
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  • J. Ben-Ari,

    1. ‘Sackler’ Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. Pediatric Intensive Care Unit, Meir Medical Center, Kfar Saba, Israel
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  • D. Takagi,

    1. ‘Sackler’ Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. Pediatric Intensive Care Unit, Meir Medical Center, Kfar Saba, Israel
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  • T. Stauber,

    1. ‘Sackler’ Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. Allergy and Clinical Immunology, Meir Medical Center, Kfar Saba, Israel
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  • L. Trakhtenbrot,

    1. ‘Sackler’ Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. 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
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  • E. Rosenthal,

    1. ‘Sackler’ Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. 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
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  • G. Rechavi,

    1. ‘Sackler’ Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. 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
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  • N. Amariglio,

    1. ‘Sackler’ Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. 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
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  • R. Somech

    Corresponding author
    1. ‘Sackler’ Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. 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
    3. Pediatric Immunology Service, Jeffrey Modell Foundation (JMF) Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel
    • Correspondence: R. Somech, Pediatric Immunology, Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel.

      E-mail: raz.somech@sheba.health.gov.il

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Summary

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 (Treg) 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.

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