PMID- 23745996
OWN - NLM
STAT- MEDLINE
DCOM- 20140214
LR  - 20130610
IS  - 1445-5994 (Electronic)
IS  - 1444-0903 (Linking)
VI  - 43
IP  - 6
DP  - 2013 Jun
TI  - Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic 
      recurrent acute pericarditis.
PG  - 725-7
LID - 10.1111/imj.12163 [doi]
AB  - Although idiopathic recurrent acute pericarditis (IRAP) is generally presumed to 
      derive from an autoimmune process, increasing interest is currently being devoted 
      to autoinflammatory diseases, a group of disorders of the innate immune system 
      caused by mutations of genes involved in the regulation or activation of the 
      inflammatory response, without any apparent involvement of autoimmunity. The 
      tumour necrosis factor receptor-1-associated periodic syndrome is the most common 
      autosomal dominant autoinflammatory disorder and is caused by mutations in the 
      TNFRSF1A gene encoding the 55-kD receptor for tumour necrosis factor-alpha. IRAP 
      patients carrying TNFRSF1A gene mutations have been recently described. We report 
      herein the first IRAP patients carrying the rare R104Q and D12E TNFRSF1A gene 
      mutations, thus expanding the spectrum of tumour necrosis factor 
      receptor-1-associated periodic syndrome mutations in IRAP patients.
CI  - (c) 2013 The Authors; Internal Medicine Journal (c) 2013 Royal Australasian College 
      of Physicians.
FAU - Cantarini, L
AU  - Cantarini L
AD  - Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory 
      Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena, 
      Siena, Italy. cantariniluca@hotmail.com
FAU - Lucherini, O M
AU  - Lucherini OM
FAU - Vitale, A
AU  - Vitale A
FAU - Sabadini, L
AU  - Sabadini L
FAU - Brizi, M G
AU  - Brizi MG
FAU - Frediani, B
AU  - Frediani B
FAU - Muscari, I
AU  - Muscari I
FAU - Galeazzi, M
AU  - Galeazzi M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - Australia
TA  - Intern Med J
JT  - Internal medicine journal
JID - 101092952
RN  - 0 (Receptors, Tumor Necrosis Factor, Type I)
RN  - 0 (TNFRSF1A protein, human)
SB  - IM
MH  - Acute Disease
MH  - Adult
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation/*genetics
MH  - Pericarditis/*diagnosis/*genetics
MH  - Receptors, Tumor Necrosis Factor, Type I/*genetics
MH  - Recurrence
EDAT- 2013/06/12 06:00
MHDA- 2014/02/15 06:00
CRDT- 2013/06/11 06:00
PHST- 2012/08/07 00:00 [received]
PHST- 2012/11/07 00:00 [accepted]
PHST- 2013/06/11 06:00 [entrez]
PHST- 2013/06/12 06:00 [pubmed]
PHST- 2014/02/15 06:00 [medline]
AID - 10.1111/imj.12163 [doi]
PST - ppublish
SO  - Intern Med J. 2013 Jun;43(6):725-7. doi: 10.1111/imj.12163.