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X-linked Multisystem Autoinflammatory Disease With Immune Dysregulation in a Pediatric Patient: A Rare Case and
Sara Laranja1, Inês Piscalho1, Matilde Caetano1
1Pediatrics Department, Faro's Hospital, Faro, PRT.
Abstract:
X-linked multisystem autoinflammatory disease with immune dysregulation (ADMIDX) is a rare X-linked recessive disorder with only a few cases described in the literature. It typically presents with variable cytopenias and systemic or organ-specific autoinflammatory features. We report the case of a 10-year-old male with recurrent febrile episodes, seizures, splenomegaly, and elevated proinflammatory cytokines. Given the suspicion of an autoinflammatory condition, a genetic panel was performed, identifying a hemizygous mutation in the DOCK11 gene, subsequently associated with ADMIDX. As the patient remains clinically stable, a conservative "watchful waiting" approach has been adopted. This report aims to raise awareness among pediatricians and emphasize the diagnostic challenges posed by this rare condition.
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