ライフサイエンスコーパス: autoinflammatory

1 n of the somatosensory system to autoimmune, autoinflammatory, allergic, and infectious processes in

2 ic for NLRP3-associated syndromes, including autoinflammatory and autoimmune diseases, and a tool for

3 ammasome has also been linked to a number of autoinflammatory and autoimmune disorders.

4 tory responses that are associated with both autoinflammatory and metabolic diseases.

5 NLRs have known roles in autoimmune, autoinflammatory, and infectious diseases.

6 association with (usually) viral infections, autoinflammatory/autoimmune diseases, malignant diseases

7 rome (SchS) is a rare disease with suspected autoinflammatory background that shares several clinical

8 Cherubism is a rare autoinflammatory bone disorder that is associated with p

9 ate on the genetics and immunologic basis of autoinflammatory bone disorders including chronic recurr

10 and IL1RN have been identified in monogenic autoinflammatory bone disorders that have allowed more d

11 ed on what has been learned in the monogenic autoinflammatory bone disorders, IL-1 is emerging as an

12 cal, genetic, and immunologic aspects of the autoinflammatory bone disorders.

13 e (TRAPS) is an inherited autosomal-dominant autoinflammatory condition caused by mutations in the ec

14 ic syndrome (TRAPS) is an autosomal-dominant autoinflammatory condition caused by mutations in the TN

15 ic syndrome (TRAPS) is an autosomal-dominant autoinflammatory condition caused by mutations in the TN

16 n in human OTULIN causes a potentially fatal autoinflammatory condition termed OTULIN-related autoinf

17 ical adenitis (PFAPA) is a relatively common autoinflammatory condition that primarily affects childr

18 Pseudogout is an autoinflammatory condition triggered by calcium pyrophos

19 CD4 T cells from the target site in a human autoinflammatory condition.

20 nflammasome has been associated with several autoinflammatory conditions including gout.

21 3 activation and type I IFN production cause autoinflammatory conditions such as Aicardi-Goutieres sy

22 seen in type I interferonopathies and other autoinflammatory conditions.

23 r respective proteins, responsible for eight autoinflammatory conditions.

24 oval of IL-1-blocking agents for a number of autoinflammatory conditions.

25 as well as their role in the pathogenesis of autoinflammatory Crohn's disease.

26 at in contrast to related IL-1beta-dependent autoinflammatory cryopyrinopathies, Blau syndrome is not

27 Autoinflammatory disease and hyperinflammatory syndromes

28 ells affects inflammatory responses in human autoinflammatory disease and in mouse models of inflamma

29 iated alterations in patients with monogenic autoinflammatory disease and opens up possibilities for

30 EFV or pyrin) are associated with hereditary autoinflammatory disease and severe IBD.

31 me (TRAPS) is an autosomal dominant systemic autoinflammatory disease associated with heterozygous mu

32 sum, and Acne Syndrome (PAPA syndrome) is an autoinflammatory disease caused by aberrant production o

33 culopathy with onset in infancy (SAVI) is an autoinflammatory disease caused by gain-of-function muta

34 Here, we report an autoinflammatory disease caused by loss-of-function muta

35 or DIRA, to denote this autosomal recessive autoinflammatory disease caused by mutations affecting I

36 Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in MEFV, wh

37 rranean fever (FMF) is an IL-1beta-dependent autoinflammatory disease caused by mutations of Mediterr

38 Schnitzler syndrome is an adult-onset autoinflammatory disease characterized by urticarial exa

39 adaptor protein PSTPIP2 are the cause of the autoinflammatory disease chronic multifocal osteomyeliti

40 bryonic lethality, macrothrombocytopenia and autoinflammatory disease develop in mice carrying hypomo

41 utations in its B30.2/SPRY domain causes the autoinflammatory disease familial Mediterranean fever by

42 We have now identified an autoinflammatory disease in mice driven by IL-18, but no

43 We describe a patient with an autoinflammatory disease in which the main clinical feat

44 ase-interacting protein 2 (PSTPIP2), lead to autoinflammatory disease involving extramedullary hemato

45 tor antagonist (IL-1Ra) deficiency is a rare autoinflammatory disease involving neonatal onset of pus

46 Our understanding of the etiology of autoinflammatory disease is growing rapidly.

47 The autoinflammatory disease mevalonate kinase deficiency (M

48 mic juvenile idiopathic arthritis (sJIA), an autoinflammatory disease of unknown etiology, this appro

49 iligo alone, with an extended autoimmune and autoinflammatory disease phenotype, or with both.

50 tible to environmental mycobacteria and have autoinflammatory disease presentations.

51 questions that are expected to be central in autoinflammatory disease research in the coming decade.

52 ponsible for the development of a persistent autoinflammatory disease resembling chronic recurrent mu

53 Blau syndrome is an autoinflammatory disease resulting from mutations in the

54 t that the definition of what constitutes an autoinflammatory disease should be reassessed.

55 This new phenotype encompasses an autoinflammatory disease showing similarities to many as

56 Mutations in the NLRP3 gene cause the autoinflammatory disease spectrum cryopyrin-associated p

57 flammasome defect that expands the monogenic autoinflammatory disease spectrum to include MAS and sug

58 e, and cause the autosomal dominant systemic autoinflammatory disease spectrum, termed cryopyrin-asso

59 Recognizing autoinflammatory disease symptom patterns, performing ap

60 Rheumatoid arthritis is a chronic autoinflammatory disease that affects 1-2% of the world'

61 His case highlights IL-1Ra deficiency as an autoinflammatory disease that is distinct from neonatal-

62 well established genetic model of autoimmune/autoinflammatory disease that resembles systemic lupus e

63 he cause of a life-threatening but treatable autoinflammatory disease that underscores the divergent

64 ean fever (FMF) is the most common monogenic autoinflammatory disease worldwide.

65 nd F-BAR protein that has been implicated in autoinflammatory disease, most notably in the PAPA syndr

66 Autoinflammatory disease, which is bone marrow-derived y

67 ional target for therapeutic intervention in autoinflammatory disease.

68 which gain-of-function pyrin mutations cause autoinflammatory disease.

69 anean fever (FMF), the most common Mendelian autoinflammatory disease.

70 nd humans, to a propensity for infection and autoinflammatory disease.

71 hat is associated with a macrophage-mediated autoinflammatory disease.

72 aggerated and sustained responses leading to autoinflammatory disease.

73 Ndfip1 deletion in Treg cells results in autoinflammatory disease.

74 uggest classification of PAPA syndrome as an autoinflammatory disease.

75 tivation by NEMO, and its absence results in autoinflammatory disease.

76 ies in patients with Schnitzler syndrome, an autoinflammatory disease.

77 host-regulated actin-dependent processes and autoinflammatory disease.

78 identify IFN-gamma as a mediator of systemic autoinflammatory disease.

79 filamentous bacteria, and an extraintestinal autoinflammatory disease.

80 We define six categories of autoinflammatory disease: IL-1beta activation disorders

81 o recognize and treat patients with systemic autoinflammatory diseases and inform our understanding o

82 The autoinflammatory diseases are a group of conditions that

83 Autoinflammatory diseases are a group of disorders chara

84 Systemic autoinflammatory diseases are caused by mutations in gen

85 The autoinflammatory diseases are characterized by seemingly

86 The systemic autoinflammatory diseases are characterized by seemingly

87 Autoinflammatory diseases are disorders of the innate im

88 Systemic autoinflammatory diseases are driven by abnormal activat

89 Although some autoinflammatory diseases are due to gain-of-function mu

90 The newly recognized group of autoinflammatory diseases are often accompanied by repet

91 Autoinflammatory diseases are often associated with a di

92 cell death implicated in the pathogenesis of autoinflammatory diseases as well as in disorders charac

93 deployment of anti-IL-1 therapies to control autoinflammatory diseases associated with aberrant infla

94 the innate immune system can cause systemic autoinflammatory diseases associated with increased IL-1

95 and perhaps treat, lupus nephritis and other autoinflammatory diseases caused by the decreased abilit

96 Polymorphisms in NOD1 are associated with autoinflammatory diseases characterized by uveitis such

97 ense mutations in NLRP3 result in a group of autoinflammatory diseases collectively known as the cryo

98 he genes and proteins mutated in many of the autoinflammatory diseases has broadened our understandin

99 the hereditary periodic fever subset of the autoinflammatory diseases has continued to expand.

100 cterization of a growing number of monogenic autoinflammatory diseases has provided important insight

101 The study of autoinflammatory diseases has uncovered mechanisms under

102 le, the role of IL-1, novel entities such as autoinflammatory diseases have been described.

103 Advances in our understanding of the autoinflammatory diseases have led to renewed interest i

104 Unlike other autoinflammatory diseases in which anti-TNF therapy is l

105 e association of mutations in NLR genes with autoinflammatory diseases indicates an important functio

106 Autoimmune and autoinflammatory diseases involve interactions between g

107 the gene encoding NLRP3 cause a spectrum of autoinflammatory diseases known as cryopyrin-associated

108 Autoinflammatory diseases manifest inflammation without

109 P3/CIAS1/PYPAF1 gene are associated with the autoinflammatory diseases Muckle-Wells syndrome (MWS), f

110 n proposed as useful therapeutics in various autoinflammatory diseases or amelioration of inflammator

111 Patients with autoinflammatory diseases present with noninfectious fev

112 matoses are a group of complex heterogeneous autoinflammatory diseases that all demonstrate excessive

113 Autoinflammatory diseases were first recognized nearly 2

114 ely activate these pathways underlie several autoinflammatory diseases with diverse clinical features

115 nean fever and several of the other systemic autoinflammatory diseases, a recently recognized group o

116 tory processes, including infection, sepsis, autoinflammatory diseases, and metabolic diseases.

117 genetic basis of both mendelian and complex autoinflammatory diseases, and with the recognition that

118 epidemiologically associated autoimmune and autoinflammatory diseases, implicating the innate immune

119 evelopment of novel biological therapies for autoinflammatory diseases, including IBD.

120 erlie familial Mediterranean fever and other autoinflammatory diseases, may predispose to vasculitis.

121 Here we review these monogenic autoinflammatory diseases, ranging from periodic fever s

122 ations in NFKB1 and suggest that a subset of autoinflammatory diseases, such as Behcet disease, can b

123 w, we describe the genetically characterized autoinflammatory diseases, we summarize our understandin

124 Finally, we analyse key features of autoinflammatory diseases, which are helpful to distingu

125 ion induced by NALP3 mutants associated with autoinflammatory diseases.

126 not in that of patients with other inherited autoinflammatory diseases.

127 tools to address infectious, autoimmune, and autoinflammatory diseases.

128 tial therapeutic target in uveitis and other autoinflammatory diseases.

129 ated genes shared by multiple autoimmune and autoinflammatory diseases.

130 to understand human systemic autoimmune and autoinflammatory diseases.

131 hology associated with several autoimmune or autoinflammatory diseases.

132 mic and local inflammatory conditions called autoinflammatory diseases.

133 receptor signaling, exhibiting a feature of autoinflammatory diseases.

134 IL-1 family because of its role in mediating autoinflammatory diseases.

135 entral to the pathogenesis of many monogenic autoinflammatory diseases.

136 d to the addition of gout to the spectrum of autoinflammatory diseases.

137 epidemiologically associated autoimmune and autoinflammatory diseases.

138 ons in CIAS1/cryopyrin are linked to several autoinflammatory diseases.

139 and contributes to the pathology of various autoinflammatory diseases.

140 that LDHA may be targeted therapeutically in autoinflammatory diseases.

141 at contribute to a variety of autoimmune and autoinflammatory diseases.

142 o new treatments for cytosolic DNA-triggered autoinflammatory diseases.

143 nd modulation of exaggerated inflammation in autoinflammatory diseases.

144 rapy of RA and possibly other autoimmune and autoinflammatory diseases.

145 ot in cells of patients afflicted with other autoinflammatory diseases.

146 mutations are associated with autoimmune and autoinflammatory diseases.

147 et juvenile idiopathic arthritis and related autoinflammatory diseases.

148 stinct interleukin-1beta (IL-1beta)-mediated autoinflammatory diseases: familial Mediterranean fever

149 1R1, is broadly used to treat autoimmune and autoinflammatory diseases; however, blocking IL-1 increa

150 immunological reclassification of SJIA as an autoinflammatory disorder as well as detailing the drama

151 Gout is an autoinflammatory disorder associated with deposition of

152 ase 1 (ERAP1), Hap10, is associated with the autoinflammatory disorder Behcet's disease (BD) in epist

153 tor-associated periodic syndrome (TRAPS), an autoinflammatory disorder caused by missense mutations i

154 Blau syndrome is a rare, autosomal-dominant, autoinflammatory disorder characterized by granulomatous

155 TRAPS, OMIM 142680) is an autosomal dominant autoinflammatory disorder characterized by prolonged att

156 al Mediterranean Fever (FMF) is an inherited autoinflammatory disorder characterized by unprovoked ep

157 the gene encoding pyrin are associated with autoinflammatory disorder Familial Mediterranean Fever (

158 SJIA is an autoinflammatory disorder in which defects of innate imm

159 sum, and acne (PAPA), a dominantly inherited autoinflammatory disorder mediated predominantly by gran

160 function are the most frequent cause of this autoinflammatory disorder of childhood and are also asso

161 This mouse strain shows an autoinflammatory disorder that is prevented by genetic d

162 t multifocal osteomyelitis (CRMO) is a human autoinflammatory disorder that primarily affects bone.

163 anean fever (FMF) is a recessively inherited autoinflammatory disorder with high carrier frequencies

164 The autoinflammatory disorder, Neonatal-onset Multisystem In

165 l Mediterranean fever (FMF) is an archetypal autoinflammatory disorder, which is autosomal recessive

166 nsor of double-stranded DNA, is activated in autoinflammatory disorders and by DNA damage.

167 Several autoinflammatory disorders are associated with missense

168 involvement is a defining characteristic of autoinflammatory disorders caused by abnormal IL-1 signa

169 the gene encoding NLRP3 are associated with autoinflammatory disorders characterized with excessive

170 cal clues and tips that can help to identify autoinflammatory disorders in patients presenting with c

171 This pathway is dysregulated in autoinflammatory disorders such as hyper-IgD syndrome, i

172 The cryopyrinopathies are a group of rare autoinflammatory disorders that are caused by mutations

173 s (PFSs) comprise a subset of the hereditary autoinflammatory disorders that are defined by recurrent

174 Though a complex set of autoinflammatory disorders that can be precipitated by d

175 ells syndrome (MWS) are dominantly inherited autoinflammatory disorders that cause rashes, fever, art

176 thogenesis of pustular psoriasis, a model of autoinflammatory disorders with predominant cutaneous ma

177 n and features prominently in autoimmune and autoinflammatory disorders, allergy, acute and chronic i

178 g the distinguishing features of the classic autoinflammatory disorders, and appreciating the treatme

179 CARD9 has been associated with autoinflammatory disorders, and loss-of-function mutatio

180 s well as the pathogenesis of autoimmune and autoinflammatory disorders, and serves to link adaptive

181 inflammatory syndrome (FCAS) and the related autoinflammatory disorders, Muckle-Wells syndrome and ne

182 ed, inflammation may result in autoimmune or autoinflammatory disorders, neurodegenerative disease, o

183 urther underscored by their association with autoinflammatory disorders, wherein localized inflammati

184 rial rash, such as urticarial vasculitis and autoinflammatory disorders.

185 que IFN signaling signature, unlike in other autoinflammatory disorders.

186 ich places these entities in the category of autoinflammatory disorders.

187 ng of caspase-1 inhibitors such as VX-765 in autoinflammatory disorders.

188 e have been recently linked to three chronic autoinflammatory disorders.

189 ar connection between two seemingly distinct autoinflammatory disorders.

190 disrupt nucleic acid metabolism can lead to autoinflammatory disorders.

191 infections, malignancies, or autoimmune and autoinflammatory disorders.

192 erleukin-1 receptor antagonist used to treat autoinflammatory disorders.

193 implicated in the pathogenesis of hereditary autoinflammatory disorders.

194 ts of systemic inflammation in patients with autoinflammatory disorders.

195 ction and predispose individuals to specific autoinflammatory disorders.

196 ense mutations in the CIAS1 gene cause three autoinflammatory disorders: familial cold autoinflammato

197 LP3/CIAS1/cryopyrin gene are linked to three autoinflammatory disorders: Muckle-Wells syndrome, famil

198 , clonally expanded T cells from the site of autoinflammatory drainage in long-term type 1 diabetics,

199 nism of older-onset PsJIA appears to involve autoinflammatory dysregulation centered at the synovial-

200 However, autoinflammatory episodes continued unabated until hemat

201 tion had antibody deficiency and experienced autoinflammatory episodes, including aphthae, gastrointe

202 sponsible for instigating self-DNA triggered autoinflammatory events in the cell.

203 ons in MEFV (encoding human PYRIN) result in autoinflammatory familial Mediterranean fever syndrome.

204 pathways and cell types that drive cutaneous autoinflammatory features remain poorly understood.

205 der (XLPDR), a primary immunodeficiency with autoinflammatory features.

206 nary evidence of association between SNPs in autoinflammatory genes and psoriatic JIA.

207 reover, we designed a panel consisting of 32 autoinflammatory genes to explore genetic susceptibility

208 nduce immune-related adverse events that are autoinflammatory in nature.

209 against a multitude of organs and multiorgan autoinflammatory infiltrates.

210 /beta immunity, reminiscent of the Mendelian autoinflammatory interferonopathies Aicardi-Goutieres sy

211 sis of lymphocytes from peripheral blood and autoinflammatory lesions of thyroid tissue.

212 nd inflammasome activities contribute to the autoinflammatory manifestations of WAS, thereby identify

213 T1-IFN) are known to be a constituent of the autoinflammatory milieu within the pancreas of patients

214 However, evidence from an autoinflammatory murine model indicates that IL-18, the

215 nd several members are associated with human autoinflammatory or immunodeficiency disorders.

216 keleton-organizing protein PSTPIP1 cause the autoinflammatory PAPA syndrome is still elusive.

217 ients with GPP are viewed as evidence for an autoinflammatory pathogenesis.

218 e findings identify pustular psoriasis as an autoinflammatory phenotype caused by defects in vesicula

219 The autoinflammatory phenotype of spin mice is fully suppres

220 We propose that the autoinflammatory phenotype results from impaired downreg

221 pyrin by mutant PSTPIP1 proteins explain the autoinflammatory phenotype seen in PAPA syndrome.

222 Similarly, Trex1(-/-) mice have an autoinflammatory phenotype; however, the mechanism of Tr

223 Both autoimmune and autoinflammatory phenotypes are suppressed when spin hom

224 mmasome complex with ASC after engagement by autoinflammatory PSTPIP1 mutants.

225 This pathway physiologically modulates autoinflammatory responses, because Sphk2(-/-) T cells i

226 amily LMG446, hearing loss is accompanied by autoinflammatory signs and symptoms without serologic ev

227 Psoriasis is an autoinflammatory skin disease of unknown etiology.

228 C, in 15 unrelated individuals with a severe autoinflammatory skin disorder known as pustular psorias

229 mice (cpdm), is a major contributor to their autoinflammatory skin phenotype, as genetic coablation o

230 Familial cold autoinflammatory syndrome (FCAS) and the related autoinf

231 Familial cold autoinflammatory syndrome (FCAS) is an autosomal dominan

232 Familial cold autoinflammatory syndrome (FCAS) is caused by mutations

233 yndrome (MWS), 18 with familial cold-induced autoinflammatory syndrome (FCAS), and 3 probands with MW

234 s Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), and neonatal-onset mul

235 flammatory disorders including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome

236 Familial cold autoinflammatory syndrome (FCAS, MIM 120100), commonly k

237 inflammatory condition termed OTULIN-related autoinflammatory syndrome (ORAS).

238 ich is classified as a proteasome-associated autoinflammatory syndrome (PRAAS).

239 Mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene have been recen

240 patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryop

241 me, also known as "cryopyrin," "cold-induced autoinflammatory syndrome 1" (CIAS1), or nacht domain-,

242 such as Muckle-Wells syndrome, familial cold autoinflammatory syndrome and urate crystal-induced peri

243 r-associated periodic syndrome (TRAPS) is an autoinflammatory syndrome associated with mutations in t

244 tugal and Mexico with an autosomal-recessive autoinflammatory syndrome characterized by joint contrac

245 4416) is a rare autosomal dominant inherited autoinflammatory syndrome characterized by pyogenic ster

246 ic juvenile idiopathic arthritis (JIA) is an autoinflammatory syndrome in which the myelomonocytic li

247 elevated temperature (CANDLE syndrome) is an autoinflammatory syndrome recently described in children

248 g genetic and clinical spectrum of TRAPS, an autoinflammatory syndrome resulting from mutations in th

249 c syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that results from mutations in

250 ctrum of diseases ranging from familial cold autoinflammatory syndrome to Muckle-Wells syndrome to NO

251 orders: Muckle-Wells syndrome, familial cold autoinflammatory syndrome, and chronic infantile neurolo

252 nesses, Muckle-Wells syndrome, familial cold autoinflammatory syndrome, and NOMID/CINCA.

253 ee autoinflammatory disorders: familial cold autoinflammatory syndrome, Muckle-Wells syndrome and neo

254 cryopyrin are associated with familial cold autoinflammatory syndrome, Muckle-Wells syndrome and neo

255 cal and pathogenic description of this novel autoinflammatory syndrome, thereby expanding the clinica

256 uses Muckle-Wells syndrome and familial cold autoinflammatory syndrome, two dominantly inherited diso

257 onocytes expressing familial cold-associated autoinflammatory syndrome-associated Cryopyrin mutations

258 Here, we show that one of the autoinflammatory syndrome-causing mutants of NLRC4, H443

259 some-related genes might be involved in this autoinflammatory syndrome.

260 n healthy control subjects and patients with autoinflammatory syndrome.

261 d acne; Muckle-Wells syndrome; familial cold autoinflammatory syndrome; immunodysregulation, polyendo

262 ious potential complication of the inherited autoinflammatory syndromes and frequently results in end

263 tivation of inflammasomes is associated with autoinflammatory syndromes and other pathologies.

264 d inflammasome activation is associated with autoinflammatory syndromes and several common diseases.

265 These include rare diseases such as autoinflammatory syndromes and urticarial vasculitis in

266 The autoinflammatory syndromes are systemic disorders charac

267 New models for the pathogenesis of several autoinflammatory syndromes have been proposed, including

268 and clinical characterizations of monogenic autoinflammatory syndromes have led to ground breaking i

269 mation and thus novel therapeutic targets in autoinflammatory syndromes including other IL-1beta medi

270 IRA have encouraged their wider use in other autoinflammatory syndromes including the classic heredit

271 Monogenic autoinflammatory syndromes present with excessive system

272 witched B cells and 'IgD-armed' basophils in autoinflammatory syndromes with periodic fever, our data

273 s on recent progress in our understanding of autoinflammatory syndromes, and how insights into these

274 ations in inflammasome-related genes lead to autoinflammatory syndromes, and review the contribution

275 and IL1RN, cause two severe and early-onset autoinflammatory syndromes, CAPS (cryopyrin associated p

276 ans, NLR mutations are often associated with autoinflammatory syndromes, suggesting a complex role fo

277 cial role of IL-1beta in the pathogenesis of autoinflammatory syndromes, we hypothesized that IL-1bet

278 editerranean fever, 2 archetypical monogenic autoinflammatory syndromes.

279 Point mutations in NLRC4 cause autoinflammatory syndromes.

280 une system activation owing to infections or autoinflammatory syndromes.

281 lease is central to the pathogenesis of many autoinflammatory syndromes.

282 le dermatomyositis, juvenile scleroderma and autoinflammatory syndromes.

283 ovide insights regarding the pathogenesis of autoinflammatory syndromes.

284 from gene mutations is related to monogenic autoinflammatory syndromes.

285 the adaptive immune system in patients with autoinflammatory syndromes.

286 in NLRP3 are associated with recurrent fever/autoinflammatory syndromes.

287 egulatory cells from the site of drainage of autoinflammatory tissue and autoantigenic T cell priming

288 ns in TNFRSF1A cause the autosomal-dominant, autoinflammatory TNFR-associated periodic syndrome (TRAP