Risk Factors for Hematopoietic Stem Cell Transplantation in Inborn Errors of Immunity

Hematopoietic stem cell transplantation (HSCT) is increasingly used in inborn errors of immunity (IEI). A specific spectrum of disease complications at HSCT affect post-HSCT survival in IEI; however, the risk factors for HSCT are poorly studied.

To determine the risk factors for HSCT in IEI.

In the current study were included 312 patients with various IEI who received a first allogeneic HSCT in our center from 2012 to 2020. Different approaches to HSCT were used. An association of overall survival (OS) and risk factors, such as active infection (n = 73), autoimmunity or inflammation (n = 89), malignancy (n = 15), unknown genetic diagnosis (n = 247), nutritional status determined on body mass index (undernutrition, n = 31, obesity, n = 25), age at HSCT (>12 years, n = 37) and organ damage (n = 92) were studied.

Median follow-up after HSCT was 5,2 years (range 1,8-10,5). OS was 74% (95% CI 69-79%). The OS was significantly lower in SCID (n = 43) than other IEI (n = 269): 49 (95% CI 34-64%) versus 78% (95% CI 73-83%), Р < ,0001. The only factor, not affecting survival in IEI was unknown genetic defect, while other factors decreased survival. OS was 43% in active infection (P < ,0001), 61% in autoimmunity or inflammation (P = ,003), 67% in malignancy (P = ,47), 52% in undernutrition and 64% in obesity, (P = ,002), 61% in >12 years old (excluding SCID, P = ,02) and 59% in pre-existing organ damage (P < ,0001).

The current study showed several important risk factors for HSCT in IEI. New tools are needed to predict post-HSCT survival in pediatric IEI.