consultant Pediatric allergy and clinical Immunology Government Riyadh, Saudi Arabia
Introduction/Rationale: Hyperimmunoglobulin E syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent infections, eczema, and elevated serum IgE. Dedicator of Cytokinesis 8 (DOCK8) deficiency, an autosomal recessive form of HIES, is further associated with severe allergies, viral susceptibility, and malignancy risk. We present a case of DOCK8 deficiency in an 11-year-old male who developed large vessel vasculitis involving the aorta and proximal neck vessels, with associated wall irregularities and aneurysmal dilatation—a previously unreported complication in this syndrome. This report highlights the expanding clinical spectrum of DOCK8 deficiency and underscores the importance of monitoring for vascular pathology.
Methods: An 11-year-old Saudi male with DOCK8 deficiency (diagnosed in infancy with extreme IgE >19,130, eczema, and anaphylaxis) presented with fever. He was tachycardic. CRP was 245 mg/L. Imaging revealed diffuse aortic disease.
Results: Chest CT showed a dilated, calcified thoracic aorta. Cardiac MRI confirmed large vessel vasculitis: marked wall thickening/enhancement of the entire aorta and proximal neck vessels, with aneurysmal dilatations. No abdominal aneurysm. Brain MRI showed Chiari I malformation, no vasculitis.
Management & Outcome Treated with IVIG (2g/kg) and IV methylprednisolone pulse, then oral prednisolone taper. Stable discharge with multidisciplinary follow-up. No surgery required.
Conclusion: This is the first report of extensive large vessel vasculitis in DOCK8 deficiency, expanding its phenotype. DOCK8 immune dysregulation may predispose to vascular inflammation. Vigilance and advanced imaging are crucial for similar patients.
