Format

Send to

Choose Destination
Clin Immunol. 2018 Aug;193:118-120. doi: 10.1016/j.clim.2018.01.004. Epub 2018 May 7.

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

Author information

1
Stem Cell Laboratory, Section of Hematology and Blood Coagulation, Clinical Chemistry Laboratory, Diagnostics Department, ASST Spedali Civili of Brescia, Brescia, Italy. Electronic address: arnalda.lanfranchi@asst-spedalicivili.it.
2
Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
3
Pediatric Onco-Haematology and BMT Unit, Children's Hospital, ASST Spedali Civili of Brescia, Brescia, Italy.
4
Stem Cell Laboratory, Section of Hematology and Blood Coagulation, Clinical Chemistry Laboratory, Diagnostics Department, ASST Spedali Civili of Brescia, Brescia, Italy.
5
Clinical Chemistry Laboratory, Diagnostics Department, ASST Spedali Civili of Brescia, Brescia, Italy.
6
Centro Ricerca Emato-oncologica AIL (CREA), Clinical Chemistry Laboratory, Diagnostics Department, ASST Spedali Civili of Brescia, Brescia, Italy.

Abstract

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.

PMID:
29355610
DOI:
10.1016/j.clim.2018.01.004

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center