The expanding clinical spectrum of autoinflammatory diseases with NOD2 variants: a case series and literature review.

ABSTRACT:

Objective

To assess the impact conferred by NOD2 variants on the clinical spectrum of patients with systemic autoinflammatory diseases (SAIDs) in Greece.

Methods

Consecutive patients (n=167) with confirmed SAIDs who underwent screening by next generation sequencing (NGS) targeting 26 SAID-associated genes, and carried at least one NOD2 gene variant, were retrospectively studied. The demographic, clinical and laboratory parameters were recorded.

Results

In total, 24 rare NOD2 variants in 23/167 patients (14%) were detected. Notably, 18 patients had at least one co-existing variant in 13 genes other than NOD2. Nine patients had juvenile- and 14 adult-onset disease. All patients presented with symptoms potentially induced by the NOD2 va

SUBMITTER: Karamanakos A 

PROVIDER: S-EPMC10859468 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature