Х-СЦЕПЛЕННОЕ МУЛЬТИСИСТЕМНОЕ АУТОВОСПАЛИТЕЛЬНОЕ ЗАБОЛЕВАНИЕ С ИММУННОЙ ДИСРЕГУЛЯЦИЕЙ, ОБУСЛОВЛЕННОЕ ВАРИАНТАМИ ГЕНА DOCK11: СОБСТВЕННОЕ КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ И ОПИСАНИЕ ПРЕДСТАВЛЕННЫХ В ЛИТЕРАТУРЕ СЛУЧАЕВ

X-LINKED MULTISYSTEM AUTOINFLAMMATORY DISEASE WITH IMMUNE DYSREGULATION CAUSED BY DOCK11 GENE VARIANTS: A CLINICAL CASE REPORT AND REVIEW OF PUBLISHED CASES

X-linked multisystem autoinflammatory disease with immune dysregulation caused by DOCK11 gene variants (OMIM: 301045) is characterized by clinical heterogeneity, including autoinflammatory and autoimmune manifestations. To date, 13 patients with this rare disease have been described in the world literature. The article presents a clinical case of a 7-year-old boy with disease onset at 9 months of age, manifesting as therapy-refractory systemic-onset juvenile idiopathic arthritis (fever, rash, polyarthritis, hepatosplenomegaly). Whole-exome sequencing in this patient revealed a previously unreported hemizygous variant in the DOCK11 gene: c.1415A>G (p.His472Arg). This observation underscores the necessity of including DOCK11 genetic screening in the diagnostic algorithm for children with multisystem inflammation of unknown etiology masquerading as systemic-onset juvenile idiopathic arthritis, particularly in cases of therapy-refractory disease course. © 2025, Pediatria Ltd.. All rights reserved.