Haematopoietic stem cell transplant (HSCT) in childrens with inborn errors of immunity in Uruguay

The inborn errors of immunity (IEI) are rare diseases, often underdiagnosed and potentially severe, where hematopoietic stem cell transplantation (HSCT) serves as a curative treatment in many cases. Our objective is to describe pediatric patients with IEI who underwent HSCT in Uruguay, including their specific pathologies, type of transplant, and survival outcomes.
This is a descriptive, retrospective study involving patients under 15 years of age, diagnosed with IEI, and who received HSCT in Uruguay between 2006 and 2022. Data were obtained through a review of clinical records.
A total of 17 patients with IEI received HSCT during the analyzed period, including thirteen males and four females. Among them, twelve patients were younger than 4 years old, four patients were between 4 and 8 years old, and one patient was 11 years old.
The diagnoses were as follows: Severe combined immunodeficiency (SCID) (4, 23.5%),
CD40 ligand deficiency (3, 17.6%), primary hemophagocytic lymphohistiocytosis (HLH) (4, 23.5%), X-linked lymphoproliferative syndrome type 1 (XLP-1) (1, 5.8%), chronic granulomatous disease (CGD) (2, 11.7%), severe congenital neutropenia (3, 17.6%).
A total of 21 allogeneic transplants were performed, with nine being haploidentical (43%), eight from an unrelated donor (38%), and five from histoidentical siblings (24%). Among the patients, five died: two with SCID and three with HLH.
HSCT in patients with IEI began in Uruguay in 2006. Seventeen patients received allogeneic HSCT. Twelve are alive, the 5 patients who died were carriers of the most severe IEI in advanced stages of the disease. 43% of the donors were haploidentical due to the delay in obtaining an unrelated matched donor in our country, and the experience of the HSCT center.

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