Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency

J Rheumatol. 2019 May;46(5):523-526. doi: 10.3899/jrheum.180045. Epub 2019 Jan 15.

Abstract

Objective: 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.

Methods: Expression levels of IS were determined by quantitative real-time PCR.

Results: Five white patients were identified as carrying CECR1 mutations. The IS before treatment was elevated in 4 out of 5 patients and decreased after treatment.

Conclusion: Our data confirm the high variability of DADA2 and suggest type I IS as a biomarker of disease activity.

Keywords: ADA2 DEFICIENCY; DISEASE BIOMARKER; INTERFERON.

MeSH terms

  • Adenosine Deaminase / deficiency*
  • Adenosine Deaminase / genetics
  • Adolescent
  • Adult
  • Agammaglobulinemia / diagnosis
  • Agammaglobulinemia / genetics*
  • Child
  • Female
  • Genetic Predisposition to Disease / epidemiology*
  • Hospitals, Pediatric
  • Humans
  • Intercellular Signaling Peptides and Proteins / deficiency*
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Interferons / genetics*
  • Italy
  • Male
  • Mutation, Missense
  • Pedigree
  • Phenotype
  • Prognosis
  • Rare Diseases
  • Sampling Studies
  • Severe Combined Immunodeficiency / diagnosis
  • Severe Combined Immunodeficiency / genetics*
  • Transcriptome / genetics*

Substances

  • Intercellular Signaling Peptides and Proteins
  • Interferons
  • ADA2 protein, human
  • Adenosine Deaminase

Supplementary concepts

  • Severe combined immunodeficiency due to adenosine deaminase deficiency