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

## TL;DR

This paper describes a rare X-linked autoinflammatory disease in a 10-year-old boy and highlights the challenges in diagnosing such rare conditions.

## Contribution

The novel contribution is the identification of a DOCK11 mutation in a pediatric patient with ADMIDX, adding to the limited literature on this rare disorder.

## Key findings

- A 10-year-old male was found to have a hemizygous mutation in the DOCK11 gene associated with ADMIDX.
- The patient exhibited symptoms including febrile episodes, seizures, splenomegaly, and elevated cytokines.
- A conservative watchful waiting approach was adopted due to clinical stability.

## 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.