"Fatal venous thromboembolism and divergent phenotypes in DOCK8 deficiency: a three-sibling case series".
Şeyda Köse Özcan, Kübra Yırgın, Ahmet Sert et al.
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Case in brief
Three siblings with genetically confirmed DOCK8 deficiency had early-onset atopic dermatitis, recurrent respiratory infections, and failure to thrive. All developed bronchiectasis and severe viral infections. Two had serious ocular complications: CMV retinitis with persistent visual impairment in one and herpesvirus-associated corneal perforation in another. One sibling also developed iatrogenic Cushing syndrome after prolonged topical corticosteroid use. In that patient, catheter-related superficial thrombophlebitis progressed to deep vein thrombosis and cerebral venous sinus thrombosis, followed by a fatal outcome complicated by probable pulmonary thromboembolism.
What made this case unusual
The fatal thromboembolic course occurred alongside the multisystem manifestations of DOCK8 deficiency, while the three affected siblings showed divergent complications, including severe ocular disease and corticosteroid-associated Cushing syndrome.
Diagnostic / clinical pearl
DOCK8 deficiency can involve severe viral disease, bronchiectasis, ocular injury, and thromboembolism; consider the diagnosis in patients with early-onset eczema and recurrent infections, and recognize the potential for irreversible organ damage.
Why it matters
The report emphasizes early diagnosis and timely planning for hematopoietic stem cell transplantation, which the authors identify as the only curative therapeutic approach.