Reduced toxicity conditioning and a high CD34⁺ cell dose can achieve full donor chimerism in DOCK8 deficiency.

ABSTRACT:

Background

Biallelic mutations in the dedicator of cytokinesis 8 (DOCK8) gene were identified as the cause of combined immunodeficiency in 2009. Survival rates without hematopoietic stem cell transplant in patients with DOCK8 deficiency decline from 87% at 10 years to 33% at 30 years. Hematopoietic stem cell transplant is therefore the recommended treatment for cure of DOCK8 deficiency. However, patients with DOCK8 deficiency have multiple infectious comorbidities; hence, they cannot tolerate myeloablative conditioning. Reduced intensity conditioning reduces the risk of transplant-related mortality but increases the possibility of mixed chimerism. Mixed chimerism in children with immunodeficiency increases the risk of autoimmunity and the need for long-term immunoglobulin in

SUBMITTER: Pandrowala A 

PROVIDER: S-EPMC10510004 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature