Introduction:
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.
Methods:
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.
Results:
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.
Conclusions:
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.