A case with febrile attacks and vasculopathy associated with ADA2 and MEFV pathogenic variants.

Parlar, Kerem; Tahir Turanli, Eda; Nuhoglu Kantarci, Eda; Hacioglu, Aysa; Kirectepe Aydin, Asli; Ayla, Ali Yagiz; Voyvoda, Umut; Ozdogan, Huri; Ugurlu, Serdal

A case with febrile attacks and vasculopathy associated with ADA2 and MEFV pathogenic variants.

Parlar, Kerem; Tahir Turanli, Eda; Nuhoglu Kantarci, Eda; Hacioglu, Aysa; Kirectepe Aydin, Asli; Ayla, Ali Yagiz; Voyvoda, Umut; Ozdogan, Huri; Ugurlu, Serdal.

Parlar K; Yeditepe University School of Medicine, Istanbul, Turkey.
Tahir Turanli E; Faculty of Engineering and Natural Sciences, Molecular Biology and Genetics, Acibadem University, Istanbul, Turkey.
Nuhoglu Kantarci E; Graduate School of Natural and Applied Science, Molecular Biology and Genetics, Acibadem University, Istanbul, Turkey.
Hacioglu A; Division of Hematology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Kirectepe Aydin A; Department of Endocrinology, School of Medicine, Erciyes University, Kayseri, Turkey.
Ayla AY; Medical Faculty, Department of Biomedical Science, Nisantasi University, Istanbul, Turkey.
Voyvoda U; Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Ozdogan H; Graduate School of Natural and Applied Science, Department of Molecular and Translational Biomedicine, Acibadem University, Istanbul, Turkey.
Ugurlu S; Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Mod Rheumatol Case Rep ; 8(1): 121-124, 2023 Dec 29.

Article en En | MEDLINE | ID: mdl-37542433

Asunto(s)

Adenosina Desaminasa; Poliarteritis Nudosa; Humanos; Masculino; Adulto Joven; Adulto; Adenosina Desaminasa/genética; Péptidos y Proteínas de Señalización Intercelular/genética; Poliarteritis Nudosa/complicaciones; Poliarteritis Nudosa/diagnóstico; Poliarteritis Nudosa/genética; Mutación; Fenotipo; Fiebre; Pirina/genética

Palabras clave

ADA2; MEFV; cutaneous polyarteritis nodosa; deficiency of adenosine deaminase 2; familial Mediterranean fever

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Poliarteritis Nudosa / Adenosina Desaminasa Tipo de estudio: Risk_factors_studies Límite: Adult / Humans / Male Idioma: En Año: 2023 Tipo del documento: Article

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