A patient heterozygous for R92Q mutation with periodic fever and aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype

A patient heterozygous for R92Q mutation with periodic fever and aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype

Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is an autosomal dominant disease caused by mutations located on the type 1 tumor necrosis factor receptor (TNFRSF1A) gene. Here we present a 3-year-old boy heterozygous for R92Q mutation in TNFRSF1A gene expressing a periodic fever...

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Bibliographic Details
Main Authors: Ezgi Deniz Batu, Hafize Emine Sönmez, Yelda Bilginer, Seza Özen
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2018-12-01
Series:The Turkish Journal of Pediatrics
Subjects:
R92Q mutation
and adenitis
periodic fever with aphthous stomatitis
pharyngitis
tumor necrosis factor receptor associated periodic syndrome
Online Access:https://turkjpediatr.org/article/view/928
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