Autoinflammatory & rare systemic diseases
Redox imbalance and NLRP3 activation: H syndrome mistaken for cryopyrin-associated periodic syndrome (CAPS)—a case report
Authors' conclusion
This case highlights the phenotypic overlap between H syndrome and CAPS, including shared inflammasome dysregulation.
Study context
- Population
- 24-year-old male with early-onset urticarial rash, fever, hearing loss, oral ulcers, colitis and episodic inflammation, misdiagnosed until adulthood as CAPS
- Participants
- 1 participants
Methodological detailsClinical, immunological, genetic (whole-exome sequencing (WES), segregation by quantitative PCR (qPCR)) and functional assessments
- Clinical, immunological, genetic (WES, segregation by qPCR) and functional assessments
Main finding
As reported in the abstract
- Enhanced and accelerated IL-1β secretion and increased ASC speck formation in CD14+ cells after lipopolysaccharide (LPS) stimulation (NLRP3 inflammasome hyperactivation)
- Reactive oxygen species (ROS) production significantly elevated in granulocytes and monocytes, even at baseline
- Type I interferon signature intermittently positive
- Homozygous deletion of exon 2 in SLC29A3, confirming H syndrome
Original publication
Redox imbalance and NLRP3 activation: H syndrome mistaken for CAPS—a case report. Rheumatology (Oxford). Published 9 December 2025. doi:10.
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