Autosomal dominant periodic fever with AA amyloidosis: tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family.
We investigated the presence of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family with recurrent fever and systemic reactive (AA) amyloidosis. A missense mutation in exon 3 of the TNFRSF1A gene, resulting in an amino acid substitution Phe60Leu (F60L) was found in the proband and his father. These are the first confirmed TRAPS cases in the Turkish population. This family highlights the importance of onsidering all the causes of inherited fevers and performing thorough clinical and genetic investigations to secure a diagnosis, even in populations in which familial Mediterranean fever (FMF) is highly prevalent.
Dinc
Ayhan
A
Department of Medicine, Division of Rheumatology, Gulhane Military School of Medicine, Ankara, Turkey.
Erdem
Hakan
H
Rowczenio
Dorota
D
Simsek
Ismail
I
Pay
Salih
S
Bahce
Muhterem
M
Lachmann
Helen
H
D000328:Adult; D000686:Amyloidosis / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics*; D014421:Turkey
D018124:Receptors, Tumor Necrosis Factor