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
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Adenosine Deaminase / deficiency*
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Adenosine Deaminase / genetics
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Adolescent
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Adult
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Agammaglobulinemia / diagnosis
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Agammaglobulinemia / genetics*
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Child
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Female
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Genetic Predisposition to Disease / epidemiology*
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Hospitals, Pediatric
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Humans
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Intercellular Signaling Peptides and Proteins / deficiency*
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Intercellular Signaling Peptides and Proteins / genetics*
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Interferons / genetics*
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Italy
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Male
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Mutation, Missense
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Pedigree
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Phenotype
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Prognosis
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Rare Diseases
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Sampling Studies
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Severe Combined Immunodeficiency / diagnosis
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Severe Combined Immunodeficiency / genetics*
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Transcriptome / genetics*
Substances
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Intercellular Signaling Peptides and Proteins
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Interferons
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ADA2 protein, human
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Adenosine Deaminase
Supplementary concepts
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Severe combined immunodeficiency due to adenosine deaminase deficiency