Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype-Reference-Cited by-同舟云学术

Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype

Published:2017-01-14 Issue:2 Volume:5 Page:110-116
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Grandemange Sylvie¹²,Cabasson Sébastien³,Sarrabay Guillaume¹²⁴⁵,Pène Jérôme²,Rittore Cécile¹²,Sanchez Elodie¹²,Chastang Marie-Caroline⁶,Guyon Gaël⁷,Pillet Pascal⁶,Touitou Isabelle¹²⁴⁵

Affiliation:

1. Département de génétique médicale, maladies rares et médecine personnalisée; CHRU de Montpellier; Montpellier France

2. INSERM UMR1183; IRMB; Montpellier France

3. Service de pédiatrie; CHU de Pau; Pau France

4. Centre de référence des maladies autoinflammatoires; CeRéMAI; CHRU de Montpellier; Montpellier France

5. Université de Montpellier; Montpellier France

6. Service de pédiatrie médicale; CHRU de Bordeaux; Bordeaux France

7. Service de pédiatrie générale; CHRU de Montpellier; Montpellier France

Funder

CHRU of Montpellier

UCB pharma

Institut National de la Santé et de la Recherche Médicale

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference15 articles.

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2. Different presentations in patients with tumor necrosis factor receptor-associated periodic syndrome mutations: report of two cases;Celebi-Tayfur;Turk. J. Pediatr.,2013

3. The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway;Greco;Arthritis. Res. Ther.,2015

4. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry;Lachmann;Ann. Rheum. Dis.,2014

5. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease;Lesage;Am. J. Hum. Genet.,2002

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