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

Research output: Contribution to journalArticle

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.

Original languageEnglish
JournalJournal of Rheumatology
DOIs
Publication statusE-pub ahead of print - Jan 15 2019

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Interferons
Phenotype
Interferon Type I
Real-Time Polymerase Chain Reaction
Up-Regulation
Biomarkers
Mutation
Therapeutics
Genes

Cite this

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title = "Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency",
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.",
author = "Antonella Insalaco and Moneta, {Gian Marco} and Manuela Pardeo and Ivan Caiello and Virginia Messia and Claudia Bracaglia and Chiara Passarelli and {De Benedetti}, Fabrizio",
year = "2019",
month = "1",
day = "15",
doi = "10.3899/jrheum.180045",
language = "English",
journal = "Journal of Rheumatology",
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publisher = "Journal of Rheumatology",

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TY - JOUR

T1 - Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency

AU - Insalaco, Antonella

AU - Moneta, Gian Marco

AU - Pardeo, Manuela

AU - Caiello, Ivan

AU - Messia, Virginia

AU - Bracaglia, Claudia

AU - Passarelli, Chiara

AU - De Benedetti, Fabrizio

PY - 2019/1/15

Y1 - 2019/1/15

N2 - 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.

AB - 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.

U2 - 10.3899/jrheum.180045

DO - 10.3899/jrheum.180045

M3 - Article

C2 - 30647181

JO - Journal of Rheumatology

JF - Journal of Rheumatology

SN - 0315-162X

ER -