Work

X-linked Multisystem Autoinflammatory Disease With Immune Dysregulation in a Pediatric Patient: A Rare Case and Review of the Literature

Year: 2025

Type: article

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.

Source: Cureus

DOI: 10.7759/cureus.94783

Authors: Sara Laranja, Inês Piscalho, Matilde Caetano, Inês Coelho, Luísa Gaspar, Maria João Virtuoso

Institution: Hospital de Faro EPE

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4415298296