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

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...

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Detalles Bibliográficos
Autores principales: Lanfranchi, Arnalda, Lougaris, Vassilios, Notarangelo, Lucia Dora, Soncini, Elena, Comini, Marta, Beghin, Alessandra, Bolda, Federica, Montanelli, Alessandro, Imberti, Luisa, Porta, Fulvio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106042/
https://www.ncbi.nlm.nih.gov/pubmed/29355610
http://dx.doi.org/10.1016/j.clim.2018.01.004
Descripción
Sumario: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.