PMID- 10199409
OWN - NLM
STAT- MEDLINE
DCOM- 19990427
LR  - 20190705
IS  - 0092-8674 (Print)
IS  - 0092-8674 (Linking)
VI  - 97
IP  - 1
DP  - 1999 Apr 2
TI  - Germline mutations in the extracellular domains of the 55 kDa TNF receptor,
      TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
PG  - 133-44
AB  - Autosomal dominant periodic fever syndromes are characterized by unexplained
      episodes of fever and severe localized inflammation. In seven affected families, 
      we found six different missense mutations of the 55 kDa tumor necrosis factor
      receptor (TNFR1), five of which disrupt conserved extracellular disulfide bonds. 
      Soluble plasma TNFR1 levels in patients were approximately half normal.
      Leukocytes bearing a C52F mutation showed increased membrane TNFR1 and reduced
      receptor cleavage following stimulation. We propose that the autoinflammatory
      phenotype results from impaired downregulation of membrane TNFR1 and diminished
      shedding of potentially antagonistic soluble receptor. TNFR1-associated periodic 
      syndromes (TRAPS) establish an important class of mutations in TNF receptors.
      Detailed analysis of one such mutation suggests impaired cytokine receptor
      clearance as a novel mechanism of disease.
FAU - McDermott, M F
AU  - McDermott MF
AD  - Medical Unit, St. Bartholomew's and the Royal London Hospital School of Medicine 
      and Dentistry, Whitechapel, London, England. m.f.mcdermott@mds.qmw.ac.uk
FAU - Aksentijevich, I
AU  - Aksentijevich I
FAU - Galon, J
AU  - Galon J
FAU - McDermott, E M
AU  - McDermott EM
FAU - Ogunkolade, B W
AU  - Ogunkolade BW
FAU - Centola, M
AU  - Centola M
FAU - Mansfield, E
AU  - Mansfield E
FAU - Gadina, M
AU  - Gadina M
FAU - Karenko, L
AU  - Karenko L
FAU - Pettersson, T
AU  - Pettersson T
FAU - McCarthy, J
AU  - McCarthy J
FAU - Frucht, D M
AU  - Frucht DM
FAU - Aringer, M
AU  - Aringer M
FAU - Torosyan, Y
AU  - Torosyan Y
FAU - Teppo, A M
AU  - Teppo AM
FAU - Wilson, M
AU  - Wilson M
FAU - Karaarslan, H M
AU  - Karaarslan HM
FAU - Wan, Y
AU  - Wan Y
FAU - Todd, I
AU  - Todd I
FAU - Wood, G
AU  - Wood G
FAU - Schlimgen, R
AU  - Schlimgen R
FAU - Kumarajeewa, T R
AU  - Kumarajeewa TR
FAU - Cooper, S M
AU  - Cooper SM
FAU - Vella, J P
AU  - Vella JP
FAU - Amos, C I
AU  - Amos CI
FAU - Mulley, J
AU  - Mulley J
FAU - Quane, K A
AU  - Quane KA
FAU - Molloy, M G
AU  - Molloy MG
FAU - Ranki, A
AU  - Ranki A
FAU - Powell, R J
AU  - Powell RJ
FAU - Hitman, G A
AU  - Hitman GA
FAU - O'Shea, J J
AU  - O'Shea JJ
FAU - Kastner, D L
AU  - Kastner DL
LA  - eng
GR  - AR44422/AR/NIAMS NIH HHS/United States
GR  - GM52607/GM/NIGMS NIH HHS/United States
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Cell
JT  - Cell
JID - 0413066
RN  - 0 (Antigens, CD)
RN  - 0 (Receptors, Tumor Necrosis Factor)
RN  - 0 (Receptors, Tumor Necrosis Factor, Type I)
SB  - IM
MH  - Amino Acid Sequence
MH  - Antigens, CD/biosynthesis/blood/*genetics/metabolism
MH  - DNA Mutational Analysis/methods
MH  - Familial Mediterranean Fever/*genetics
MH  - Female
MH  - Genes, Dominant/genetics
MH  - Germ-Line Mutation/*genetics
MH  - Humans
MH  - Leukocytes/metabolism
MH  - Male
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Receptors, Tumor Necrosis Factor/biosynthesis/blood/*genetics/metabolism
MH  - Receptors, Tumor Necrosis Factor, Type I
MH  - Syndrome
EDAT- 1999/04/13 00:00
MHDA- 1999/04/13 00:01
CRDT- 1999/04/13 00:00
PHST- 1999/04/13 00:00 [pubmed]
PHST- 1999/04/13 00:01 [medline]
PHST- 1999/04/13 00:00 [entrez]
AID - S0092-8674(00)80721-7 [pii]
AID - 10.1016/s0092-8674(00)80721-7 [doi]
PST - ppublish
SO  - Cell. 1999 Apr 2;97(1):133-44. doi: 10.1016/s0092-8674(00)80721-7.