A clinical score to guide in decision making for monogenic type I IFNopathies.

ABSTRACT:

Objective

To develop a set of clinical criteria that identifies patients with a potential autoinflammatory IFNopathy.

Methods

Based on a literature review, a set of clinical criteria identifying genetically confirmed monogenic IFNopathies was selected. For validation, the clinical score was assessed in healthy controls (HCs) and 18 disease controls, including 2 known autoimmune IFNopathies, juvenile systemic lupus erythematosus (JSLE, n = 4) and dermatomyositis (JDM, n = 4); adenosine deaminase 2 deficiency (DADA2, n = 4); and oligoarticular juvenile idiopathic arthritis (oJIA, n = 6). We assessed an IFN score (IRG-S) in whole blood by NanoString using a previously published 28-gene-IRG-S and a reduced 6-gene-IRG-S.

Results

The 12 patients with a possible IFNopathy ha

SUBMITTER: Sonmez HE 

PROVIDER: S-EPMC8425764 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature