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

Antonella Insalaco; Gian Marco Moneta; Manuela Pardeo; Ivan Caiello; Virginia Messia; Claudia Bracaglia; Chiara Passarelli; Fabrizio De Benedetti

doi:10.3899/jrheum.180045

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

Antonella Insalaco, Gian Marco Moneta, Manuela Pardeo, Ivan Caiello, Virginia Messia, Claudia Bracaglia, Chiara Passarelli, Fabrizio De Benedetti

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

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 language	English
Journal	Journal of Rheumatology
DOIs	https://doi.org/10.3899/jrheum.180045
Publication status	E-pub ahead of print - Jan 15 2019

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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 = jan,

day = "15",

doi = "10.3899/jrheum.180045",

language = "English",

journal = "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 -

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

Abstract

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