Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India.

This article focuses on the clinical, immunological, and molecular characterization of six patients with dedicator of cytokinesis protein 8 (DOCK8) deficiency, a rare autosomal recessive combined immunodeficiency associated with early-onset eczema, cutaneous viral infections, allergies, autoimmunity, and malignancies. The study, conducted at a single center in India, identified diverse clinical manifestations including recurrent eczematous lesions, warts, molluscum contagiosum, prurigo nodularis, and epidermodysplasia verruciformis-like lesions, alongside immunological features such as elevated IgE, eosinophilia, and lymphopenia. Genetic analysis revealed various pathogenic DOCK8 variants, including novel mutations, confirming the diagnosis in all patients. The findings underscore the importance of considering DOCK8 deficiency in patients presenting with early eczema and viral skin infections, given the risk of severe infections and malignancy, and highlight the role of immunoglobulin replacement and hematopoietic stem cell transplantation in management.