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 | |
| Publication status | E-pub ahead of print - Jan 15 2019 |
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Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency. / Insalaco, Antonella; Moneta, Gian Marco; Pardeo, Manuela; Caiello, Ivan; Messia, Virginia; Bracaglia, Claudia; Passarelli, Chiara; De Benedetti, Fabrizio.
In: Journal of Rheumatology, 15.01.2019.Research output: Contribution to journal › Article
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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 -