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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.
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  • Insalaco A; From the Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy. antonella.insalaco@opbg.net.
  • Moneta GM; A. Insalaco, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; G.M. Moneta, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; M. Pardeo, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; I. Caiello, BSc, Division of Rheumatology, IRCCS,
  • Pardeo M; From the Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Caiello I; A. Insalaco, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; G.M. Moneta, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; M. Pardeo, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; I. Caiello, BSc, Division of Rheumatology, IRCCS,
  • Messia V; From the Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Bracaglia C; A. Insalaco, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; G.M. Moneta, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; M. Pardeo, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; I. Caiello, BSc, Division of Rheumatology, IRCCS,
  • Passarelli C; From the Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • De Benedetti F; A. Insalaco, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; G.M. Moneta, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; M. Pardeo, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; I. Caiello, BSc, Division of Rheumatology, IRCCS,
J Rheumatol ; 46(5): 523-526, 2019 05.
Article en En | MEDLINE | ID: mdl-30647181
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.
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Adenosina Desaminasa / Interferones / Inmunodeficiencia Combinada Grave / Predisposición Genética a la Enfermedad / Agammaglobulinemia / Péptidos y Proteínas de Señalización Intercelular / Transcriptoma Tipo de estudio: Diagnostic_studies / Prognostic_studies País/Región como asunto: Europa Idioma: En Revista: J Rheumatol Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Adenosina Desaminasa / Interferones / Inmunodeficiencia Combinada Grave / Predisposición Genética a la Enfermedad / Agammaglobulinemia / Péptidos y Proteínas de Señalización Intercelular / Transcriptoma Tipo de estudio: Diagnostic_studies / Prognostic_studies País/Región como asunto: Europa Idioma: En Revista: J Rheumatol Año: 2019 Tipo del documento: Article