Publications:

Improving Diagnosis and Clinical Management of Acquired Systemic Autoinflammatory Diseases.

Journal Of Inflammation Research

Al-Hakim, Adam A; Mistry, Anoop A; Savic, Sinisa S

Publication Date: 2022

Variant appearance in text: TNFRSF1A: Phe89Leu

PubMed Link: 36238769

Variant Present in the following documents:

• Main text
• jir-15-5739.pdf

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Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation

Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L

Publication Date: 2019

Variant appearance in text: TNFRSF1A: 265T>C; rs104895245

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

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Somatic mosaicism in adult-onset TNF receptor-associated periodic syndrome (TRAPS).

Molecular Genetics & Genomic Medicine

Kontzias, Apostolos A; Zarabi, Samaneh K SK; Calabrese, Cassandra C; Wang, Yan Y; Judis, LuAnn L; Yao, QingPing Q; Cheng, Yu-Wei YW

Publication Date: 2019-08

Variant appearance in text: TNFRSF1A: 265T>C; Phe89Leu; rs104895245

PubMed Link: 31397119

Variant Present in the following documents:

• Main text
• MGG3-7-e791.pdf

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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology

Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A

Publication Date: 2017

Variant appearance in text: TNFRSF1A: Phe89Leu

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

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The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.

Annals Of The Rheumatic Diseases

Lachmann, H J HJ; Papa, R R; Gerhold, K K; Obici, L L; Touitou, I I; Cantarini, L L; Frenkel, J J; Anton, J J; Kone-Paut, I I; Cattalini, M M; Bader-Meunier, B B; Insalaco, A A; Hentgen, V V; Merino, R R; Modesto, C C; Toplak, N N; Berendes, R R; Ozen, S S; Cimaz, R R; Jansson, A A; Brogan, P A PA; Hawkins, P N PN; Ruperto, N N; Martini, A A; Woo, P P; Gattorno, M M; ,

Publication Date: 2014-12

Variant appearance in text: TNFRSF1A: Phe89Leu

PubMed Link: 23965844

Variant Present in the following documents:

• Main text
• annrheumdis-2013-204184.pdf

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