Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency.
case_series · Level IV
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- Record sourced from PubMed, PMID 30647181.
- Also identified by DOI 10.3899/jrheum.180045.
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Abstract
An upregulation of type I interferon (IFN) stimulated genes [IFN score (IS)] was described in patients with adenosine deaminase 2 deficiency (DADA2). We describe the clinical course of 5 such patients and the role of IS as a marker of disease activity and severity. Expression levels of IS were determined by quantitative real-time PCR. Five white patients were identified as carrying <i>CECR1</i> mutations. The IS before treatment was elevated in 4 out of 5 patients and decreased after treatment. Our data confirm the high variability of DADA2 and suggest type I IS as a biomarker of disease activity.
Medical subject headings
- Adenosine Deaminase
- Agammaglobulinemia
- Genetic Predisposition to Disease
- Intercellular Signaling Peptides and Proteins
- Interferons
- Severe Combined Immunodeficiency
- Transcriptome