Co‐existence of clonal expanded autologous and transplacental‐acquired maternal T cells in recombination activating gene‐deficient severe combined immunodeficiency. (June 2014)

• Record Type: Journal Article
• Authors: Lev, A.; Simon, A. J.; Ben‐Ari, J.; Takagi, D.; Stauber, T.; Trakhtenbrot, L.; Rosenthal, E.; Rechavi, G.; Amariglio, N.; Somech, R.
• Is Part Of: Clinical and experimental immunology. Volume 176:Number 3(2014:Jun.)
• Page Start: 380
• Page End: 386
• Publication Date: 2014-06
• Subjects: Immunopathology -- Periodicals; 616.079
• DOI: 10.1111/cei.12273
• Languages: English
• ISSNs: 0009-9104

Abstract

<abstract abstract-type="main"> <title>Summary</title> <p>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.</p> </abstract>