Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in <i>TNFRSF1A</i> Gene in a Family of the Adult Male with Renal AA Amyloidosis-Diagnostic and Therapeutic Challenge for Clinicians.

Zegarska, Jolanta; Wiesik-Szewczyk, Ewa; Hryniewiecka, Ewa; Wolska-Kusnierz, Beata; Soldacki, Dariusz; Kacprzak, Magdalena; Sobczynska-Tomaszewska, Agnieszka; Czerska, Kamila; Siedlecki, Pawel; Jahnz-Rozyk, Karina; Bernatowska, Ewa; Zagozdzon, Radoslaw; Paczek, Leszek

Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis-Diagnostic and Therapeutic Challenge for Clinicians.

Zegarska, Jolanta; Wiesik-Szewczyk, Ewa; Hryniewiecka, Ewa; Wolska-Kusnierz, Beata; Soldacki, Dariusz; Kacprzak, Magdalena; Sobczynska-Tomaszewska, Agnieszka; Czerska, Kamila; Siedlecki, Pawel; Jahnz-Rozyk, Karina; Bernatowska, Ewa; Zagozdzon, Radoslaw; Paczek, Leszek.

Afiliação

Zegarska J; Department of Immunology, Transplant Medicine and Internal Diseases, Medical University of Warsaw, 59 Nowogrodzka St., 02-006 Warsaw, Poland.
Wiesik-Szewczyk E; Department of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine in Warsaw, 128 Szaserów St., 04-141 Warsaw, Poland.
Hryniewiecka E; Department of Immunology, Transplant Medicine and Internal Diseases, Medical University of Warsaw, 59 Nowogrodzka St., 02-006 Warsaw, Poland.
Wolska-Kusnierz B; Department of Immunology, Children's Memorial Health Institute, 20 Dzieci Polskich Ave., 04-730 Warsaw, Poland.
Soldacki D; Department of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine in Warsaw, 128 Szaserów St., 04-141 Warsaw, Poland.
Kacprzak M; Department of Clinical Immunology, Medical University of Warsaw, 59 Nowogrodzka St., 02-006 Warsaw, Poland.
Sobczynska-Tomaszewska A; MEDGEN Medical Centre, 9a Wiktorii Wiedenskiej St., 02-954 Warsaw, Poland.
Czerska K; MEDGEN Medical Centre, 9a Wiktorii Wiedenskiej St., 02-954 Warsaw, Poland.
Siedlecki P; MEDGEN Medical Centre, 9a Wiktorii Wiedenskiej St., 02-954 Warsaw, Poland.
Jahnz-Rozyk K; Department of Bioinformatics, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, 5a Adolfa Pawinskiego St., 02-106 Warsaw, Poland.
Bernatowska E; Department of Systems Biology, University of Warsaw, 1 Miecznikowa 1., 02-096 Warsaw, Poland.
Zagozdzon R; Department of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine in Warsaw, 128 Szaserów St., 04-141 Warsaw, Poland.
Paczek L; Department of Immunology, Children's Memorial Health Institute, 20 Dzieci Polskich Ave., 04-730 Warsaw, Poland.

J Clin Med ; 10(3)2021 Jan 26.

Article em En | MEDLINE | ID: mdl-33530412

Palavras-chave

anakinra; damage index; diagnostic delay; genetic inheritance; monogenic autoinflammatory syndrome; new genetic variant; personalized therapy

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: J Clin Med Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Polônia

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google