Author: Lanfranchi, Arnalda; Lougaris, Vassilios; Notarangelo, Lucia Dora; Soncini, Elena; Comini, Marta; Beghin, Alessandra; Bolda, Federica; Montanelli, Alessandro; Imberti, Luisa; Porta, Fulvio
Title: Maternal T-cell engraftment impedes with diagnosis of a SCID-ADA patient Cord-id: pd48les0 Document date: 2018_5_7
ID: pd48les0
Snippet: 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
Document: 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.
Search related documents:
Co phrase search for related documents- ada activity and adenosine deaminase: 1
- ada activity enzyme and adenosine deaminase: 1
- ada adenosine deaminase and adenosine deaminase: 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12
- ada adenosine deaminase and ado adenosine: 1
- ada deficient and adenosine deaminase: 1
- ada deficient and ado adenosine: 1
Co phrase search for related documents, hyperlinks ordered by date