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231225s2018 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2018.01.004
|2 doi
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|a eng
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| 100 |
1 |
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|a Lanfranchi, Arnalda
|e verfasserin
|4 aut
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| 245 |
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|a Maternal T-cell engraftment impedes with diagnosis of a SCID-ADA patient
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|c 2018
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|a Text
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|a ƒaComputermedien
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|a Date Completed 27.08.2019
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|a Date Revised 02.04.2020
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2018 Elsevier Inc. All rights reserved.
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|a 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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|a Case Reports
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|a Research Support, Non-U.S. Gov't
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|a Adenosine Deaminase
|2 NLM
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| 700 |
1 |
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|a Lougaris, Vassilios
|e verfasserin
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| 700 |
1 |
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|a Notarangelo, Lucia Dora
|e verfasserin
|4 aut
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| 700 |
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|a Soncini, Elena
|e verfasserin
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|a Comini, Marta
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|a Beghin, Alessandra
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|a Bolda, Federica
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|a Montanelli, Alessandro
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|a Imberti, Luisa
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|a Porta, Fulvio
|e verfasserin
|4 aut
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 193(2018) vom: 01. Aug., Seite 118-120
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|x 1521-7035
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|g year:2018
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|g month:08
|g pages:118-120
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