The Journal of rheumatology · 2019
Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency.
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Insalaco Antonella, Moneta Gian Marco, Pardeo Manuela, Caiello Ivan, Messia Virginia, Bracaglia Claudia, Passarelli Chiara, De Benedetti Fabrizio
Аннотация
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.
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.
Предметные рубрики MeSH
Adenosine DeaminaseAdolescentAdultAgammaglobulinemiaChildFemaleGenetic Predisposition to DiseaseHospitals, PediatricHumansIntercellular Signaling Peptides and ProteinsInterferonsItalyMaleMutation, MissensePedigreePhenotypePrognosisRare DiseasesSampling StudiesSevere Combined ImmunodeficiencyTranscriptome