Clinical and immunological features of DOCK8 deficiency: a cohort of 11 Chinese patients.

Abstract

To characterize the clinical and immunological features of DOCK8 deficiency and better define its disease spectrum, we retrospectively analyzed 11 patients diagnosed at our hospital between 2014 and 2025. All patients presented in early childhood, most commonly with eczema and recurrent infections, and a higher rate of Epstein-Barr virus infection. Severe systemic infections, including sepsis and purulent meningitis, were observed in two patients at disease onset. Multisystem involvement was identified, including gastrointestinal, urinary, and cardiovascular abnormalities. Immunological evaluation showed reduced CD3+ and CD4+ T cells, decreased naïve T cells, and increased terminal effector memory T cells (TEMRA), which progressively accumulated during disease course. Eight patients underwent hematopoietic stem cell transplantation (HSCT): five achieved favorable outcomes, while three experienced severe complications, leading to two deaths. These findings indicate that DOCK8 deficiency is characterized by allergic manifestations, recurrent infections, and multisystem involvement, likely related to T-cell dysfunction. Early recognition and genetic diagnosis may facilitate timely consideration of HSCT and improve clinical outcomes.