Haploidentical stem cell transplantation in DOCK8 deficiency: a case report of successful outcomes.

Abstract

DOCK8 deficiency syndrome, formerly known as autosomal recessive hyper-IgE syndrome (AR-HIES), is a rare combined immunodeficiency disorder characterized by recurrent infections, eczema, eosinophilia, and elevated immunoglobulin E (IgE) levels. We present a case of a 6-year-old girl with DOCK8 deficiency syndrome, who experienced recurrent skin infections and molluscum contagiosum since infancy. Genetic testing confirmed the diagnosis. Due to the high morbidity and mortality associated with DOCK8 deficiency syndrome, she underwent hematopoietic stem cell transplantation (HSCT) from her father. Posttransplant, the patient's skin condition significantly improved, and she achieved full donor chimerism. This case highlights the importance of considering DOCK8 deficiency in patients with recurrent infections, eczema, eosinophilia, and high IgE levels, and the potential curative effect of HSCT for these patients.