Maternal T-cell engraftment impedes with diagnosis of a SCID-ADA patient

Publication date: Available online 7 May 2018
Source:Clinical Immunology
Author(s): Arnalda Lanfranchi, Vassilios Lougaris, Lucia Dora Notarangelo, Elena Soncini, Marta Comini, Alessandra Beghin, Federica Bolda, Alessandro Montanelli, Luisa Imberti, Fulvio Porta
We describe the case of a child affected by severe combined immunodeficiency (SCID) with adenosine deaminase (ADA) deficiency showing a maternal T-cell engraftment, a finding that has never been reported before. The presence of engrafted maternal T cells was misleading. Although ADA enzymatic levels were suggestive of ADA-SCID, the child did not present the classical signs of ADA deficiency; therefore, the initial diagnosis was of a conventional SCID. However, ADA toxic metabolites and molecular characterization confirmed this diagnosis. Polyethylene glycol-modified bovine (PEG) ADA therapy progressively decreased the number of maternal engrafted T cells. The child was grafted with full bone marrow from a matched unrelated donor, after a reduced conditioning regimen, and the result was the complete immunological reconstitution.



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