ライフサイエンスコーパス: TRAPS

1 TRAPS is caused by dominantly inherited mutations in TNF

2 TRAPS is caused by missense mutations in the extracellul

3 TRAPS mutant TNFR1 molecules were retained intracellular

4 TRAPS-associated mutant and wild-type TNFRSF1A behaved d

5 TRAPS-associated mutant TNFRSF1A has an antigenically al

6 TRAPS-associated TNFRI mutants induce the expression of

7 l fibroblasts, but not leukocytes, from C33Y TRAPS patients demonstrated reduced shedding of TNFRSF1A

8 d dermal fibroblasts from patients with C33Y TRAPS, and in HEK 293 cell lines stably transfected with

9 Nevertheless, the C43S TRAPS fibroblasts were capable of producing interleukin-

10 e established from the patient with the C43S TRAPS mutation and from healthy volunteers.

11 a suggest a new hypothesis, in that the C43S TRAPS mutation may cause the inflammatory phenotype by i

12 from neutrophils was not altered by the C43S TRAPS mutation.

13 n the samples from the patient with the C43S TRAPS mutation.

14 was completely abolished by the C33Y or C52F TRAPS-associated mutations, whereas other mutations (T50

15 e and clinical differences between different TRAPS-associated mutants of TNFRSF1A result from differe

16 functional alterations caused by 9 distinct TRAPS-associated TNFR1 mutations in transfected cells an

17 al ROS may be a novel therapeutic target for TRAPS and other inflammatory diseases.

18 oduction after LPS stimulation in cells from TRAPS patients and healthy controls.

19 and peripheral blood mononuclear cells from TRAPS patients relative to those from healthy controls.

20 t WT and mutant forms of TNFRI, derived from TRAPS patients, interact in the absence of TNF ligand.

21 se markers was also elevated in samples from TRAPS patients.

22 fibroblasts and human immune cells harboring TRAPS-associated TNFR1 mutations.

23 independent lines of knockin mice harboring TRAPS-associated TNFR1 mutations.

24 In TRAPS increased reactive oxygen species (ROS) of mitocho

25 L-6 in mediating the inflammatory attacks in TRAPS, but blockade of IL-6 did not affect the underlyin

26 Since IL-6 levels are elevated in TRAPS, we hypothesized that tocilizumab might be effecti

27 Evidence for nonallelic heterogeneity in TRAPS-like conditions was found: 3 members of the "proto

28 FRSF1A and/or TNFRSF1A mutants identified in TRAPS patients.

29 One likely mechanism of inflammation in TRAPS is the impaired cleavage of TNFRSF1A ectodomain up

30 ular locations to potentiate inflammation in TRAPS.

31 Plasma sTNFRSF1A levels were low in TRAPS patients in whom renal amyloidosis had not develop

32 t some of the inflammatory processes seen in TRAPS do not involve direct interaction of TNF with its

33 he distribution of WT and mutant TNFRSF1A in TRAPS patients with the C33Y mutation.

34 ese findings demonstrate the need to include TRAPS in the differential diagnosis of recurrent fevers

35 Instead, TRAPS mutant TNFR1 formed abnormal disulfide-linked olig

36 The patient, a 52-year-old man with lifelong TRAPS in whom treatment with etanercept and anakinra had

37 cutive subjects with sporadic (nonfamilial) "TRAPS-like" symptoms.

38 n in periodic fevers in general, and also of TRAPS in the Arab population.

39 te attack was aborted and further attacks of TRAPS were prevented.

40 rly in peripheral blood mononuclear cells of TRAPS patients and in multiple cell types from two indep

41 different cell types within the same form of TRAPS.

42 d between cell types within the same form of TRAPS.

43 and serum levels of inflammatory markers of TRAPS in a dose-dependent manner, but does not completel

44 fected cells and a mouse "knock-in" model of TRAPS.

45 ntracellular retention in the neutrophils of TRAPS patients with the C33Y mutation, with little if an

46 in of function, and thus the pathogenesis of TRAPS is an enigma.

47 ponse contributing to the pathophysiology of TRAPS.

48 loidosis and indicated a lower penetrance of TRAPS symptoms in individuals with noncysteine mutations

49 The inflammatory phenotype of TRAPS may be due to consequences of mutant TNFR1 protein

50 ns and also may explain partial responses of TRAPS patients to TNF blockade.

51 broadening genetic and clinical spectrum of TRAPS, an autoinflammatory syndrome resulting from mutat

52 5 TNFR-Fc fusion protein in the treatment of TRAPS has been favorable.

53 R347A or Deltasig constructs of wild-type or TRAPS-associated mutant TNFRSF1A.

54 ls transfected with either wild-type (WT) or TRAPS-associated mutant TNFRI.

55 of inflammatory diseases, such as FMF, PAPA, TRAPS, and HIDS, has elucidated the pathophysiology of t

56 ariants were found in patients with sporadic TRAPS (4 of 176 patients).

57 ilies, and in 14 patients (8%) with sporadic TRAPS.

58 actor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory syndro

59 actor receptor-associated periodic syndrome (TRAPS) is an autoinflammatory syndrome associated with m

60 (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal dominant systemic autoinflammator

61 eceptor (TNFR)-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory conditi

62 actor receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory conditi

63 actor receptor-associated periodic syndrome (TRAPS) is an inherited autosomal-dominant autoinflammato

64 RSF1A) in TNFR-associated periodic syndrome (TRAPS) on the binding of anti-TNFRSF1A monoclonal antibo

65 actor receptor-associated periodic syndrome (TRAPS) treated with the anti-interleukin-6 (anti-IL-6) r

66 actor receptor-associated periodic syndrome (TRAPS), an autoinflammatory disorder caused by missense

67 , TNF-receptor-associated periodic syndrome (TRAPS), presents with prolonged attacks of fever and sev

68 actor receptor-associated periodic syndrome (TRAPS), whilst both spontaneous and pathogen-associated

69 lammatory TNFR-associated periodic syndrome (TRAPS).

70 f TNF receptor-associated periodic syndrome (TRAPS).

71 actor receptor-associated periodic syndrome (TRAPS); informative markers spanning the TNFRSF1A locus

72 TNFR-associated periodic syndrome (TRAPS, OMIM 142680) is an autosomal dominant autoinflamm

73 lammation, define a periodic-fever syndrome, TRAPS (TNF receptor-associated periodic syndrome [MIM 14

74 TNFR1-associated periodic syndromes (TRAPS) establish an important class of mutations in TNF

75 The T50K TRAPS-related variant is capable of sustaining inappropr

76 ain the clinical features that are common to TRAPS patients with different TNFRSF1A mutations.

77 activity of the R92Q mutant associated with TRAPS.

78 ultiple members had symptoms compatible with TRAPS and in 176 consecutive subjects with sporadic (non

79 the myalgia experienced by individuals with TRAPS is due to a monocytic fasciitis and not to myositi

80 be herein the case of a 60-year-old man with TRAPS, in whom magnetic resonance imaging of the left th

81 l TNFRSF1A mutation (C43S) in a patient with TRAPS and to examine the effects of this TNFRSF1A mutati

82 f cysteine mutations, 13 of 14 patients with TRAPS and amyloidosis and indicated a lower penetrance o

83 Peripheral blood obtained from patients with TRAPS and healthy control subjects was stained with mono

84 s in the clinical phenotype of patients with TRAPS may be attributable to variable effects of TNFRSF1

85 6 expression by monocytes from patients with TRAPS was not attributable to a defect in activation-ind

86 Fifteen patients with TRAPS were enrolled in a prospective, open-label, dose-e

87 n by monocytes was elevated in patients with TRAPS, as a feature of the underlying constitutive infla

88 was significantly elevated in patients with TRAPS, even though the patients were not experiencing cl

89 retention in the leukocytes of patients with TRAPS, which is consistent with previous findings from i

90 liximab as anti-TNF therapy to patients with TRAPS.

91 lls (PBMCs) were obtained from patients with TRAPS.

92 iximab is often ineffective in patients with TRAPS.

93 sus wild-type (WT) TNFRSF1A in patients with TRAPS.

94 CD16+ monocytes is affected in patients with TRAPS.

95 that the genetic basis among patients with "TRAPS-like" features is heterogeneous.