Pediatric research · 2019
A clinical score to guide in decision making for monogenic type I IFNopathies.
Сравнительное исследованиеСтатьяСистематический обзорВалидационное исследованиеНазвание и аннотация: Перевод в очереди
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Sönmez Hafize Emine, Karaaslan Cagatay, de Jesus Adriana A, Batu Ezgi Deniz, Anlar Banu, Sözeri Betül, Bilginer Yelda, Karaguzel Dilara, Cagdas Ayvaz Deniz, Tezcan Ilhan, Goldbach-Mansky Raphaela, Ozen Seza
Аннотация
OBJECTIVE: To develop a set of clinical criteria that identifies patients with a potential autoinflammatory IFNopathy.
METHODS: Based on a literature review, a set of clinical criteria identifying genetically confirmed monogenic IFNopathies was selected. For validation, the clinical score was assessed in healthy controls (HCs) and 18 disease controls, including 2 known autoimmune IFNopathies, juvenile systemic lupus erythematosus (JSLE, n = 4) and dermatomyositis (JDM, n = 4); adenosine deaminase 2 deficiency (DADA2, n = 4); and oligoarticular juvenile idiopathic arthritis (oJIA, n = 6). We assessed an IFN score (IRG-S) in whole blood by NanoString using a previously published 28-gene-IRG-S and a reduced 6-gene-IRG-S.
RESULTS: The 12 patients with a possible IFNopathy had higher clinical scores (3-5) than the patients with sJLE, JDM, DADA2, and oJIA and in HCs. Both the 28-IRG-S and 6-IRG-S were significantly higher in the autoinflammatory IFNopathy patients compared to HCs and oJIA and DADA2 patients but not different from patients with JSLE and JDM. Subsequently, genetic analysis revealed mutations in genes previously reported in genes related to the IFN pathway in 9 of the 12 patients.
CONCLUSION: We developed a clinical score to identify patients with possible autoinflammatory IFNopathies. A clinical score was associated with a high IRG-S and may serve to identify patients with an autoinflammatory IFNopathy.
METHODS: Based on a literature review, a set of clinical criteria identifying genetically confirmed monogenic IFNopathies was selected. For validation, the clinical score was assessed in healthy controls (HCs) and 18 disease controls, including 2 known autoimmune IFNopathies, juvenile systemic lupus erythematosus (JSLE, n = 4) and dermatomyositis (JDM, n = 4); adenosine deaminase 2 deficiency (DADA2, n = 4); and oligoarticular juvenile idiopathic arthritis (oJIA, n = 6). We assessed an IFN score (IRG-S) in whole blood by NanoString using a previously published 28-gene-IRG-S and a reduced 6-gene-IRG-S.
RESULTS: The 12 patients with a possible IFNopathy had higher clinical scores (3-5) than the patients with sJLE, JDM, DADA2, and oJIA and in HCs. Both the 28-IRG-S and 6-IRG-S were significantly higher in the autoinflammatory IFNopathy patients compared to HCs and oJIA and DADA2 patients but not different from patients with JSLE and JDM. Subsequently, genetic analysis revealed mutations in genes previously reported in genes related to the IFN pathway in 9 of the 12 patients.
CONCLUSION: We developed a clinical score to identify patients with possible autoinflammatory IFNopathies. A clinical score was associated with a high IRG-S and may serve to identify patients with an autoinflammatory IFNopathy.
Предметные рубрики MeSH
Age of OnsetArthritis, JuvenileCase-Control StudiesChildChild, PreschoolClinical Decision RulesClinical Decision-MakingDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseHumansInfantInterferon Type ILupus Erythematosus, SystemicMaleMutationPhenotypePredictive Value of TestsPrognosisReproducibility of Results