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Article

Consanguinity and rare monogenic systemic autoinflammatory disorders: implications for prevalence and genetic variability.

Pediatric rheumatology online journal - 30 Jul 2025

AlSaleem Alhanouf, Al-Mayouf Sulaiman M

Abstract excerpt

BACKGROUND: Systemic Autoinflammatory disorders (SAIDs) are a group of immunedysregulation disorders driven by aberrant activation of the innate immune system, often linked to single-gene mutations. While consanguinity is a known risk factor for inherited disorders, including autoimmune diseases, its impact in the prevalence and genetic variability of SAIDs remains insufficiently explored. OBJECTIVE: To assess...

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Identifiers

PMID: 40739506
DOI: 10.1186/s12969-025-01133-z
PMCID: PMC12312363

Genes

GJB2
ISG15
LPIN2
NLRC4
OTULIN
PIK3CD
PLCG2
PTEN
RIPK1
SLC29A3
SOCS1
STAT1
ZNFX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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