ライフサイエンスコーパス: autoinflammatory disease

1 ional target for therapeutic intervention in autoinflammatory disease.

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

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

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

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

6 aggerated and sustained responses leading to autoinflammatory disease.

7 uggest classification of PAPA syndrome as an autoinflammatory disease.

8 ation of cytotoxic effectors associated with autoinflammatory disease.

9 ole for FBXW11 loss-of-function mutations in autoinflammatory disease.

10 athic recurrent pericarditis (IRP) is a rare autoinflammatory disease.

11 ations that reduce RNA selectivity can cause autoinflammatory disease.

12 immune cells extracted from the patient with autoinflammatory disease.

13 mmunological evaluation, was suspected of an autoinflammatory disease.

14 gous missense variant in PMVK, leading to an autoinflammatory disease.

15 ITK, Akt, and mTOR, which is dysregulated in autoinflammatory disease.

16 asmic RNA quality control failure and drives autoinflammatory disease.

17 Ndfip1 deletion in Treg cells results in autoinflammatory disease.

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

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

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

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

22 filamentous bacteria, and an extraintestinal autoinflammatory disease.

23 age, but its aberrant activation can lead to autoinflammatory diseases.

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

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

26 tial therapeutic target in uveitis and other autoinflammatory diseases.

27 ated genes shared by multiple autoimmune and autoinflammatory diseases.

28 to understand human systemic autoimmune and autoinflammatory diseases.

29 hology associated with several autoimmune or autoinflammatory diseases.

30 mic and local inflammatory conditions called autoinflammatory diseases.

31 receptor signaling, exhibiting a feature of autoinflammatory diseases.

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

33 immunomodulatory cytokines in autoimmune and autoinflammatory diseases.

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

35 epidemiologically associated autoimmune and autoinflammatory diseases.

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

37 lead to the development of autoimmune and/or autoinflammatory diseases.

38 Aberrant IL-1 signaling leads to a range of autoinflammatory diseases.

39 community in a more personalized medicine in autoinflammatory diseases.

40 n myeloid cells may characterize a subset of autoinflammatory diseases.

41 are rare and can be encountered in systemic autoinflammatory diseases.

42 ted therapies have efficacy for treatment of autoinflammatory diseases.

43 d sensing pathways, leading to autoimmune or autoinflammatory diseases.

44 17 are well-validated therapeutic targets in autoinflammatory diseases.

45 munity against pathogens and pathogenesis of autoinflammatory diseases.

46 l diagnosis and genetic testing for systemic autoinflammatory diseases.

47 the treatment of patients with autoimmune or autoinflammatory diseases.

48 l barrier defenses but also promote multiple autoinflammatory diseases.

49 diseases, including monogenic autoimmune and autoinflammatory diseases.

50 ter understanding a range of post-infectious autoinflammatory diseases.

51 ght into IFN dysregulation in autoimmune and autoinflammatory diseases.

52 is linked to the pathology of autoimmune and autoinflammatory diseases.

53 for innate immune sensors in autoimmune and autoinflammatory diseases.

54 unction of dominant STING mutants that cause autoinflammatory diseases.

55 ne, encoding MDA5, lead to interferon-driven autoinflammatory diseases.

56 ion induced by NALP3 mutants associated with autoinflammatory diseases.

57 entral to the pathogenesis of many monogenic autoinflammatory diseases.

58 and contributes to the pathology of various autoinflammatory diseases.

59 that LDHA may be targeted therapeutically in autoinflammatory diseases.

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

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

62 nd modulation of exaggerated inflammation in autoinflammatory diseases.

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

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

65 e damaged by genotoxic agents and in certain autoinflammatory diseases.

66 mutations are associated with autoimmune and autoinflammatory diseases.

67 et juvenile idiopathic arthritis and related autoinflammatory diseases.

68 gulate these TLRs can lead to autoimmune and autoinflammatory diseases(2-6).

69 ain (ZBD) of ADAR1 is associated with severe autoinflammatory disease(3-5).

70 in trained immunity include self-propagating autoinflammatory disease, a lack of controllable cell an

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

72 Autoinflammatory diseases (AIDs) are a group of rare mon

73 The family of autoinflammatory diseases (AIDs) continues to expand and

74 contributes to rheumatoid arthritis (RA) and autoinflammatory diseases (AIDs).

75 Autoinflammatory disease and hyperinflammatory syndromes

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

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

78 ntified a family affected by JAK1-associated autoinflammatory disease and performed clinical assessme

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

80 es of neutrophils in systemic autoimmune and autoinflammatory diseases and address putative therapeut

81 th other inborn errors of immunity including autoinflammatory diseases and C1 inhibitor deficiency, a

82 onal avenues for treatment of infectious and autoinflammatory diseases and cancer.

83 Ig's) ability to reduce inflammation in many autoinflammatory diseases and defined a paracrine signal

84 autoinflammatory, somatic (VEXAS) syndrome, autoinflammatory diseases and immune checkpoint inhibito

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

86 DPMUnc separates autoimmune from autoinflammatory diseases and isolates other subgroups s

87 pathway, which is associated with monogenic autoinflammatory diseases and vasculopathies.

88 atory diseases (including monogenic systemic autoinflammatory diseases) and autoimmune diseases (such

89 Inactivating mutations cause rhabdomyolysis, autoinflammatory disease, and aberrant fat storage.

90 immunodeficiencies, inherited autoimmune and autoinflammatory diseases, and hematologic and oncologic

91 ddition, they are elevated in autoimmune and autoinflammatory diseases, and in these settings they ar

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

93 in the kidney in the context of infections, autoinflammatory diseases, and renal fibrosis.

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

95 The autoinflammatory diseases are a group of conditions that

96 Autoinflammatory diseases are a group of disorders chara

97 Monogenic autoinflammatory diseases are a group of rheumatologic d

98 Hereditary autoinflammatory diseases are caused by gene mutations o

99 Systemic autoinflammatory diseases are caused by mutations in gen

100 Most autoinflammatory diseases are caused by mutations in inn

101 Autoinflammatory diseases are characterized by dysregula

102 Systemic autoimmune and autoinflammatory diseases are characterized by genetic a

103 The autoinflammatory diseases are characterized by seemingly

104 The systemic autoinflammatory diseases are characterized by seemingly

105 However, although most autoinflammatory diseases are characterized by the activ

106 Autoinflammatory diseases are conditions in which pathog

107 Autoinflammatory diseases are disorders of the innate im

108 Systemic autoinflammatory diseases are driven by abnormal activat

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

110 Autoinflammatory diseases are monogenic and polygenic di

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

112 Autoinflammatory diseases are often associated with a di

113 A number of systemic autoinflammatory diseases arise from gain-of-function mu

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

115 anisms in PAH associated with autoimmune and autoinflammatory diseases, as well as IFN therapy.

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

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

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

119 against secondary infections, its impact on autoinflammatory diseases, associated with inflammasome

120 drome is a recently discovered, adult-onset, autoinflammatory disease burdened by a high mortality ra

121 active mutant (NLRC4-V341A) associated with autoinflammatory diseases, but not FCAS, showed neither

122 tients with COVID-19 or other infectious and autoinflammatory diseases by limiting tissue damage/infl

123 of interferon genes (STING) lead to a severe autoinflammatory disease called STING-associated vasculo

124 One such autoinflammatory disease, called STING-associated vascul

125 Autoinflammatory disease can result from monogenic error

126 fication of disease alleles underlying human autoinflammatory diseases can provide important insights

127 (CMKLR1) is a promising target for treating autoinflammatory diseases, cancer, and reproductive diso

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

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

130 A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-

131 Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by homozygous or compoun

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

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

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

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

136 inflammatory, somatic (VEXAS) syndrome is an autoinflammatory disease caused by somatic mutations in

137 (FMF); is an autosomal recessively inherited autoinflammatory disease caused by the mutations in the

138 ic syndromes (CAPS) comprise a group of rare autoinflammatory diseases caused by gain-of-function mut

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

140 promote activation of RIPK1, and lead to an autoinflammatory disease characterized by hypersensitivi

141 onset in infancy (SAVI), a severe pediatric autoinflammatory disease characterized by pulmonary fibr

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

143 periodic syndromes (CAPS) are a spectrum of autoinflammatory diseases characterized by systemic and

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

145 ncy expands the genetic spectrum of systemic autoinflammatory diseases, characterized by recurrent fe

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

147 ncy in patients that suffer from a pediatric autoinflammatory disease, chronic recurrent multifocal o

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

149 s in NLRP3 are responsible for a spectrum of autoinflammatory diseases collectively referred to as "c

150 es normally associated with cytotoxicity and autoinflammatory disease.CONCLUSIONP.

151 anding of the disorders of ubiquitylation in autoinflammatory diseases could enable the development o

152 ivation in patients with an NLRP3-associated autoinflammatory disease, cryopyrin-associated periodic

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

154 n trigger the innate immune sensor MDA5, and autoinflammatory disease due to type I IFN.

155 ulation in adult mice causes a mild systemic autoinflammatory disease, dysregulation of TLR9 early in

156 nction mutations in MEFV responsible for the autoinflammatory disease Familial Mediterranean Fever (F

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

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

159 ummary, we identify APLAID as a G-CSF-driven autoinflammatory disease, for which targeted therapy is

160 Molecular testing was performed using an autoinflammatory disease gene panel to aid diagnosis.

161 amilial Mediterranean fever, the most common autoinflammatory disease globally.

162 , the number and complexity of IL-1-mediated autoinflammatory diseases has also multiplied to include

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

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

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

166 The study of autoinflammatory diseases has uncovered mechanisms under

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

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

169 1R1, is broadly used to treat autoimmune and autoinflammatory diseases; however, blocking IL-1 increa

170 al for the diagnosis of underlying monogenic autoinflammatory diseases; however, the penetrance of ge

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

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

173 components HOIP and HOIL-1 yield a systemic autoinflammatory disease in humans, whereas their geneti

174 ential curtailed by ADAR1, with relevance to autoinflammatory disease in humans.

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

176 N153S knock-in mice may develop more severe autoinflammatory disease in response to a virus challeng

177 ch as IRF3 and IFNAR1, are not essential for autoinflammatory disease in STING gain-of-function (STIN

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

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

180 detectable 'free IL-18', defines a group of autoinflammatory diseases in which IL-18 dysregulation c

181 Autoinflammatory diseases include a number of monogenic

182 e placed along a spectrum of disorders, with autoinflammatory diseases (including monogenic systemic

183 Many monogenic autoinflammatory diseases, including DADA2 (deficiency o

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

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

186 Autoimmune and autoinflammatory diseases involve interactions between g

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

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

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

190 ption of a systems-based concept of systemic autoinflammatory diseases is anticipated to have implica

191 ing infections, malignancies, and autoimmune/autoinflammatory diseases, is essential.

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

193 ted periodic syndromes (CAPS) are a group of autoinflammatory diseases linked to gain-of-function mut

194 ary inflammasome-driven, IL-1beta-dependent, autoinflammatory disease, making it an attractive therap

195 Autoinflammatory diseases manifest inflammation without

196 A number of human autoinflammatory diseases manifest with severe inflammat

197 Among genes associated with rare autoinflammatory diseases, many low-frequency and/or low

198 itin-related genes, previously implicated in autoinflammatory disease, may define new disorders.

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

200 The autoinflammatory disease mevalonate kinase deficiency (M

201 hyperactive NLRP3 mutations associated with autoinflammatory diseases more potently than MCC950.

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

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

204 d the discovery of new somatic and monogenic autoinflammatory diseases, new differential diagnoses ha

205 NLRP3-associated autoinflammatory diseases (NLRP3-AIDs) include condition

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

207 regulated to prevent systemic autoimmune or autoinflammatory disease or virus-associated immunopatho

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

209 acquired or inherited immunodeficiencies and autoinflammatory diseases, or following therapeutic inte

210 poietic cells, significantly contributing to autoinflammatory disease pathogenesis.

211 ell plasticity is crucial for development of autoinflammatory disease pathology.

212 inflammation is a hallmark of many monogenic autoinflammatory diseases; pathomechanisms that regulate

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

214 Patients with autoinflammatory diseases present with noninfectious fev

215 tible to environmental mycobacteria and have autoinflammatory disease presentations.

216 f systemic juvenile idiopathic arthritis, an autoinflammatory disease, presenting with frosted branch

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

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

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

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

221 Systemic autoinflammatory diseases (SAIDs) are caused by aberrant

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

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

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

225 irst recognized just over 2 decades ago, the autoinflammatory disease spectrum has expanded rapidly t

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

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

228 agate interferon responses in infectious and autoinflammatory disease states.

229 tolerance, antiviral signaling, and complex autoinflammatory disease states.

230 tions triggers manifestation of the systemic autoinflammatory disease STING-associated vasculopathy w

231 otrophic lateral sclerosis (ALS), lupus, and autoinflammatory diseases such as Aicardi-Goutieres synd

232 c inflammatory diseases, as well as acquired autoinflammatory diseases such as gout.

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

234 Recognizing autoinflammatory disease symptom patterns, performing ap

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

236 ) is a recently described severe adult-onset autoinflammatory disease that is associated with myeloid

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

238 Hidradenitis suppurativa (HS) is a chronic autoinflammatory disease that is highly associated with

239 rders such as Aicardi-Goutieres syndrome, an autoinflammatory disease that manifests in the brain and

240 articularly within SAVI disease, a monogenic autoinflammatory disease that renders STING constitutive

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

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

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

244 iated with autoimmunity and a broad array of autoinflammatory diseases that include the interferonopa

245 nd polymorphisms of NLRP1 are known to cause autoinflammatory diseases, the functional characterizati

246 ppropriate TLR9 responses can drive a severe autoinflammatory disease under homeostatic conditions an

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

248 Patients with autoinflammatory diseases were excluded because of the l

249 Autoinflammatory diseases were first recognized nearly 2

250 of 405 patients suspected of having systemic autoinflammatory diseases were included.

251 for promoting inflammation, particularly in autoinflammatory diseases, whereas IL-1alpha and the IL-

252 Autoinflammatory disease, which is bone marrow-derived y

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

254 disease, which attacks specific tissues, to autoinflammatory diseases, which cause low-grade systemi

255 We describe a novel autoinflammatory disease with defective neutrophil funct

256 ine (hereafter Ptpn6(spin) mice), develop an autoinflammatory disease with inflamed footpads.

257 h systemic juvenile idiopathic arthritis, an autoinflammatory disease with prominent macrophage invol

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

259 patients with VEXAS (n = 40), patients with autoinflammatory diseases without UBA1 mutations (n = 22

260 lymphohistiocytosis secondary to autoimmune/autoinflammatory disease) without persistent or relapsin

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