"Fatal venous thromboembolism and divergent phenotypes in DOCK8 deficiency: a three-sibling case series".
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Dedicator of Cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive combined immunodeficiency characterized by early-onset eczema, recurrent bacterial, viral, and fungal infections, and an increased risk of malignancy. The disease arises from impaired actin cytoskeletal regulation, leading to defective immune cell migration and T-cell activation, together with the development of a Th2-skewed immune response. In this case report, we present three siblings with genetically confirmed DOCK8 deficiency and multisystem involvement. All patients presented with early-onset atopic dermatitis, recurrent respiratory tract infections, and failure to thrive. Bronchiectasis and severe viral infections were observed in all three patients. Ocular involvement developed in two patients: one experienced Cytomegalovirus (CMV) retinitis resulting in persistent visual impairment, while the other developed corneal perforation secondary to herpesvirus infection. One patient developed iatrogenic Cushing syndrome due to prolonged topical corticosteroid use. In the same patient, catheter-related superficial thrombophlebitis progressed to deep vein thrombosis and cerebral venous sinus thrombosis, with a fatal outcome complicated by probable pulmonary thromboembolism. This case series highlights the severe multisystem involvement and risk of irreversible organ damage associated with DOCK8 deficiency, and underscores the critical importance of early diagnosis and timely planning of hematopoietic stem cell transplantation (HSCT) as the only curative therapeutic approach.