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

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.

Retracted: A Comparative Study of ARHI Imprinted Gene Detection and Fine-Needle Aspiration Cytology in the Differential Diagnosis of Benign and Malignant Thyroid Nodules

“…In 2009, BSRTC was established by the American Institute of International Oncology to classify the thyroid FNAC results in a more standardized way (Sullivan et al , 2014). In this study, cell diagnosis was still based on the classification criteria of 2002, and there was a certain bias for the results, especially for malignant potential, whose malignancy rate was only 60%, significantly lower than the recommended range of SM in BSRTC (Krauss et al , 2016; Krooks et al , 2018; Lanfranchi et al , 2018). Therefore, the application value of the above two methods in the differential diagnosis of benign and malignant thyroid nodules still needs to be verified in subsequent clinical practice.…”

Successful living donor liver transplantation for liver failure due to maternal T cell engraftment following cord blood transplantation in X-linked severe combined immunodeficiency disease: Case report

“…Maternal T cells in engrafted organs may induce inflammation with symptoms and signs such as eosinophilia, elevated liver enzymes, and skin erythema. 2,3 These hepatic and cutaneous manifestations are similar to those seen in patients with graft versus host disease (GvHD) developing after hematopoietic stem cell transplantation (HSCT). 3 Although there are some reports of liver transplantation (LT) for GvHD, 4,5 there are no reports of LT for liver failure due to engraftment of maternal T cells.…”

“…Newborns with SCID may fail to reject maternal T cells. Maternal T cells in engrafted organs may induce inflammation with symptoms and signs such as eosinophilia, elevated liver enzymes, and skin erythema 2,3 . These hepatic and cutaneous manifestations are similar to those seen in patients with graft versus host disease (GvHD) developing after hematopoietic stem cell transplantation (HSCT) 3 .…”

“…1 However, in up to 40% of patients with severe combined immunodeficiency (SCID), maternal T cells from perinatal transplacental passage have been identified in the child. 2 Newborns with SCID may fail to reject maternal T cells.…”

“…Immunocompetent newborns with effective T cell immunity can rapidly reject histocompatibility leukocyte antigen (HLA) mismatched maternal lymphocytes that bidirectionally pass between mother and fetus through the placenta 1 . However, in up to 40% of patients with severe combined immunodeficiency (SCID), maternal T cells from perinatal transplacental passage have been identified in the child 2 . Newborns with SCID may fail to reject maternal T cells.…”