Publications:

---

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.

Scientific Reports

Rittore, Cécile C; Méchin, Déborah D; Sanchez, Elodie E; Marinèche, Léa L; Ea, Vuthy V; Soler, Stephan S; Vereecke, Marion M; Mallavialle, Aude A; Richard, Eric E; Duroux-Richard, Isabelle I; Apparailly, Florence F; Touitou, Isabelle I; Grandemange, Sylvie S

Publication Date: 2021-02-18

Variant appearance in text: TNFR1: Cys62Tyr

PubMed Link: 33603056

Variant Present in the following documents:

• Main text
• 41598_2021_Article_83539.pdf

View BVdb publication page

---

Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.

International Journal Of Molecular Sciences

Cudrici, Cornelia C; Deuitch, Natalie N; Aksentijevich, Ivona I

Publication Date: 2020-05-05

Variant appearance in text: TNFR1: C62Y

PubMed Link: 32380704

Variant Present in the following documents:

• Main text
• ijms-21-03263.pdf

View BVdb publication page

---

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: 185G>A; rs104895218

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

View BVdb publication page

---

Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome.

Clinical And Experimental Immunology

Tsuji, S S; Matsuzaki, H H; Iseki, M M; Nagasu, A A; Hirano, H H; Ishihara, K K; Ueda, N N; Honda, Y Y; Horiuchi, T T; Nishikomori, R R; Morita, Y Y; Mukai, T T

Publication Date: 2019-12

Variant appearance in text: TNFRSF1A: C62Y

PubMed Link: 31429073

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Cys62Tyr

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TNFRSF1A: C62Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

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: Cys62Tyr

PubMed Link: 23965844

Variant Present in the following documents:

• Main text
• annrheumdis-2013-204184.pdf

View BVdb publication page

---

Guidelines for the genetic diagnosis of hereditary recurrent fevers.

Annals Of The Rheumatic Diseases

Shinar, Y Y; Obici, L L; Aksentijevich, I I; Bennetts, B B; Austrup, F F; Ceccherini, I I; Costa, J M JM; De Leener, A A; Gattorno, M M; Kania, U U; Kone-Paut, I I; Lezer, S S; Livneh, A A; Moix, I I; Nishikomori, R R; Ozen, S S; Phylactou, L L; Risom, L L; Rowczenio, D D; Sarkisian, T T; van Gijn, M E ME; Witsch-Baumgartner, M M; Morris, M M; Hoffman, H M HM; Touitou, I I; ,

Publication Date: 2012-10

Variant appearance in text: TNFRSF1A: C62Y

PubMed Link: 22661645

Variant Present in the following documents:

• Main text
• annrheumdis-2011-201271.pdf

View BVdb publication page

---