ライフサイエンスコーパス: PID

1 PID binding rate was also sensitive to H4B and Arg site

2 PID bound to iNOS heme to generate an irreversible PID-i

3 PID risk increased with the number of previous antibioti

4 PID skin displayed increased ecological permissiveness w

5 PID, but not D6PK, can also induce PIN1 polarity shifts,

6 a comprehensive gene panel incorporating 162 PID genes.

7 A total of 162 PID genes were screened in 261 patients by using the Ion

8 uld avert up to 12 700 (95% CrI 5000-22 200) PID cases per year, if 100% were treated immediately (ba

9 o rare, predicted pathogenic variants in 240 PID genes for which increased susceptibility to bacteria

10 pectrum of skin disorders was reported in 30 PIDs, mostly in single studies with a low number of incl

11 ed bacterial and fungal skin microbiomes (41 PID, 13 AD, 49 healthy controls) at four clinically rele

12 variants occurred in PID genes across all 8 PID categories, as defined by the International Union of

13 A PID control loop automatically stabilizes the stage agai

14 ns were abnormal in 26 children (16%), and a PID was identified in 17 patients (10%), including 1 cas

15 ribe activated PI3K-delta syndrome (APDS), a PID associated with a dominant gain-of-function mutation

16 y when cytopenia is the initial symptom of a PID, the order and depth of diagnostic steps have to be

17 of the LED light source is controlled via a PID (proportional-integral-derivative) controller implem

18 mits, the present results indicate that: (a) PID affects inflammatory and hepatic serum biochemical p

19 hods for gene editing might allow additional PIDs to be treated by gene therapy because they will all

20 3 was sufficient for binding to Shc, CH1 and PID domains of Shc were responsible for binding to Jak3.

21 The differential effects of D6PK and PID on PIN1 polarity had so far been attributed to their

22 explain the differential effects of D6PK and PID on PIN1 polarity, and suggest that a more complex mo

23 At the same time, we reveal that D6PKs and PID have differential phosphosite preferences.

24 ate an association between M. genitalium and PID, and limited data suggest associations with infertil

25 Our data suggest that IID and PID ripple-like oscillations (150-250Hz) in human epilep

26 ations, particularly those aged >2 years, as PIDs may be discovered in up to 26% of cases.

27 vels of contraceptive failure and associated PID compared with the C-IUD among WLHIV.

28 An overview of associated PIDs per skin disorder was generated.

29 We investigated the association between PID and the risk of epithelial ovarian cancer according

30 No association was observed between PID and ovarian cancer risk overall (pOR = 0.99, 95% CI:

31 Both PID-1 and TOST-1 interact directly with ERH-2 using a co

32 ntial function of PETISCO is mediated not by PID-1 but by the novel protein TOST-1 (twenty-one U path

33 is, and endemic mycoses can all be caused by PIDs.

34 eviMed(4)) identified multiple new candidate PID-associated genes, including IVNS1ABP.

35 ons in more than 170 different genes causing PIDs have been described.

36 the greatest risk was associated with T-cell PIDs and common variable immunodeficiency.

37 bility that a CT episode will cause clinical PID was 0.16 (95% credible interval (CrI): 0.06, 0.25),

38 i-infectious prophylaxis for the most common PIDs.

39 In conclusion, PID was associated with an increased risk of borderline

40 In contrast, PID ripples were associated with depolarizing synaptic i

41 a much larger impact and reduces cumulative PID incidence in women due to M. genitalium by 31.1% (95

42 At postinoculation day (PID) 28, pigs either were euthanized or were challenged

43 literature on PML in primary immune defects (PIDs).

44 ances in treating primary immune deficiency (PID) disorders by stem cell transplantation (SCT); we ha

45 Peri-infarct depolarizations (PIDs) are seemingly spontaneous spreading depression-lik

46 s, detrimental peri-infarct depolarizations (PIDs) contribute to secondary infarct growth and negativ

47 xing and a proportional-integral-derivative (PID) temperature controller minimised temperature based

48 imidazole core compound and its derivative (PID), having low cellular toxicity and high affinity for

49 isothermal proportional-integrated-derived (PID)-controlled chip.

50 typical presentation of previously described PIDs.

51 hyphenated with a photoionization detector (PID), thus creating a fast GC-PID system.

52 ype-phenotype correlations for the different PID disorders.

53 all the clinical trials targeting different PIDs has been extremely encouraging but not without cave

54 armacologically induced preictal discharges (PIDs) preceding ictal-like events.

55 Peri-implant disease (PID) has not been directly linked to pathological organ

56 ciation between pelvic inflammatory disease (PID) and ovarian cancer risk are few and inconsistent.

57 ode of clinical pelvic inflammatory disease (PID) and the reduction in such episodes among women with

58 7) comprised 3 pelvic inflammatory disease (PID) cases and 4 pregnancies with IUC in place with no d

59 ia-attributable pelvic inflammatory disease (PID) incidence, assuming status quo (Analysis 1) and imp

60 a infection and pelvic inflammatory disease (PID) is a key parameter for models evaluating the impact

61 Pelvic inflammatory disease (PID) is a leading cause of both tubal factor infertility

62 Pelvic inflammatory disease (PID) is an important cause of infertility and ectopic pr

63 ted the risk of pelvic inflammatory disease (PID), ectopic pregnancy, and infertility in women with a

64 tions may cause pelvic inflammatory disease (PID), ectopic pregnancy, and infertility.

65 dometritis, and pelvic inflammatory disease (PID), including an association with risk for human immun

66 is, cervicitis, pelvic inflammatory disease (PID), infertility and ectopic pregnancy.

67 cally suspected pelvic inflammatory disease (PID).

68 t severe primary immune deficiency diseases (PIDs) have been successfully treated with allogeneic hem

69 for rare primary immune deficiency diseases (PIDs), including severe combined immune deficiency (SCID

70 Primary immunodeficiency diseases (PIDs) are characterized by an increased risk of infectio

71 ents with primary immunodeficiency diseases (PIDs) since the early 1990s, but its real involvement ha

72 utated in primary immunodeficiency diseases (PIDs) where reversions have been described also revealed

73 tool for primary immunodeficiency diseases (PIDs).

74 any human primary immunodeficiency diseases (PIDs).

75 X-linked primary immunodeficiency disorder (PID) resulting from the deficiency of WAS-protein (WASp)

76 ren with primary immunodeficiency disorders (PIDs) experience significant psychological distress duri

77 Primary immunodeficiency disorders (PIDs) represent a range of genetically determined diseas

78 nts with primary immunodeficiency disorders (PIDs) than in the general population.

79 several primary immunodeficiency disorders (PIDs) with gene therapy.

80 nts with primary immunodeficiency disorders (PIDs), but there are no large studies looking at long-te

81 The use of laboratory testing to distinguish PIDs from HIV infection was clarified.

82 so known as principal immunodominant domain (PID) because of its high immunogenicity, and it is essen

83 retrovirus expressing Pak inhibitory domain (PID), a well-characterized inhibitor of Pak activation.

84 e newly identified PALB2-interacting domain (PID) in RNF168 and the WD40 domain in PALB2, and drives

85 n we have termed the PSF-interacting domain (PID).

86 main and phosphotyrosine interaction domain (PID) of Shc.

87 al variation in the PAM-interacting domains (PIDs) of closely related Cas9s to identify a compact ort

88 nd that astroglial calcium elevations during PIDs are mediated by inositol triphosphate receptor type

89 tracellular accumulation of glutamate during PIDs is strongly curtailed in Ip3r2-deficient mice, resu

90 Thus, our study establishes PID as a versatile iNOS inhibitor and therefore a potent

91 previously identified 21U biogenesis factor PID-1 (piRNA-induced silencing-defective 1), we here def

92 Consequently, in sporadic (or non-familial) PID genetic diagnosis is difficult and the role of genet

93 trachomatis is an important risk factor for PID, but the proportion of PID cases caused by C. tracho

94 Analyses of the outcomes of SCT for PID by specific molecular defect have clarified which co

95 years since the last major review of SCT for PID.

96 antation with RIC by using Flu/Melph and for PIDs by using bone marrow (n = 93) or peripheral blood s

97 rs, the French National Reference Center for PIDs aimed at elaborating recommendations for anti-infec

98 m morbidity, the French Reference Center for PIDs initiated a prospective multicenter cohort: the Fre

99 nel and its utility as a diagnostic tool for PIDs.

100 l in children undergoing transplantation for PIDs using RIC with fludarabine and melphalan (Flu/Melph

101 hematopoietic stem cell transplantation for PIDs was reviewed, with recommendations to give priority

102 c regimens associated with the most frequent PIDs.

103 s endowed with a 1,2-diketone functionality (PIDs) as efficient intermediates to easily access peryle

104 situ FTIR spectroscopy, HPLC-UV/FID, and GC-PID and quantified in a yield of (24 +/- 5) %.

105 tion detector (PID), thus creating a fast GC-PID system.

106 ules are significantly enriched in Hallmark, PID and KEGG pathways/gene sets.

107 The role of primary immunodeficiencies (PID) in susceptibility to sepsis remains unknown.

108 Primary immunodeficiencies (PIDs) are inherited diseases associated with a considera

109 Some primary immunodeficiencies (PIDs) are known to confer predisposition to IPD.

110 Primary Immunodeficiencies (PIDs) belong to the group of rare diseases.

111 racterization of primary immunodeficiencies (PIDs) in human subjects is crucial for a better understa

112 understanding of primary immunodeficiencies (PIDs) in pathogenesis, diagnosis, and treatment were pub

113 ts with specific primary immunodeficiencies (PIDs) including severe combined immunodeficiency and Wis

114 st children with primary immunodeficiencies (PIDs) now reach adulthood.

115 Primary immunodeficiencies (PIDs) represent exquisite models for studying mechanisms

116 Primary immunodeficiencies (PIDs) that predispose to EBV-associated malignancies hav

117 mutations cause primary immunodeficiencies (PIDs) that predispose to infections.

118 s (21%) of human primary immunodeficiencies (PIDs) were initially reported in single patients.

119 or patients with primary immunodeficiencies (PIDs) who require hematopoietic stem cell transplantatio

120 The primary immunodeficiencies (PIDs), rare inherited diseases characterized by severe d

121 of patients with primary immunodeficiencies (PIDs), the application of a prophylactic regimen is ofte

122 tic approach for primary immunodeficiencies (PIDs).

123 being Mendelian primary immunodeficiencies (PIDs).

124 features of many primary immunodeficiencies (PIDs).

125 in actin-related primary immunodeficiencies (PIDs).

126 Primary immunodeficiency (PID) disorders are a heterogeneous group of inherited di

127 Primary immunodeficiency (PID) is characterized by recurrent and often life-threat

128 n individuals with primary immunodeficiency (PID) or symptomatic secondary immunodeficiency (SID) rem

129 Primary immunodeficiency (PID) patients suffer recurrent microbial infections, pro

130 ) in patients with primary immunodeficiency (PID).

131 ances in treatment options for cytopenias in PID is provided to facilitate multidisciplinary manageme

132 ons that may reconstitute genetic defects in PID is related to an increased propensity of those genes

133 d phenotypic complexity that are observed in PID.

134 The variants occurred in PID genes across all 8 PID categories, as defined by the

135 me of increased ecological permissiveness in PID skin was counterbalanced by the maintenance of a phy

136 to uncertainty in the absolute reduction in PID and sequelae.

137 tected variants of uncertain significance in PID genes in 1 out of 5 children.

138 bial colonization and community stability in PID skin and informs our understanding of host-microbiom

139 se variants to determine whether variants in PID genes contribute to pediatric sepsis susceptibility.

140 ntify rare, predicted pathogenic variants in PID genes.

141 ureus-associated skin disorders and atopy in PIDs were limited.

142 at address the presence of skin disorders in PIDs were selected.

143 sorders are also common clinical features in PIDs and may be among the presenting manifestations.

144 hese are the most prominent skin features in PIDs.

145 on, skin disorders are prominent features in PIDs.

146 tion than that observed for genes mutated in PIDs where revertants have not been identified or contro

147 echanisms underlying disease pathogenesis in PIDs, and developments in immune cell-mediated therapy t

148 ew of skin disorders and their prevalence in PIDs.

149 i (Candida, Aspergillus) supported increased PID skin permissiveness, suggesting that skin may serve

150 und to iNOS heme to generate an irreversible PID-iNOS monomer complex that could not be converted to

151 tate a genetic diagnosis in any of 170 known PID-related genes by using next-generation sequencing (N

152 s detection of mutations in 161 of 170 known PID-related genes.

153 patients with atypical presentation of known PID genes.

154 ted atypical clinical presentations of known PIDs.

155 erforming whole-genome sequencing in a large PID cohort of 1,318 participants.

156 th malignancies and on malignancies in large PID cohorts, we conclude that a large part of tumor pred

157 This has been driven by linking PID-specific genetic defects to the associated unique ab

158 known genes that are implicated in monogenic PID occurred in 10.3% of these patients, and a Bayesian

159 microbiomes in patients with rare monogenic PIDs: hyper-IgE (STAT3-deficient), Wiskott-Aldrich, and

160 r discharge photoionization detector (muHDBD-PID) on chip with dimensions of only approximately 15 mm

161 Furthermore, the muHDBD-PID can be driven with a miniaturized ( approximately 5

162 The muHDBD-PID developed here can have a broad range of application

163 The dependence of the muHDBD-PID performance on bias voltage, auxiliary helium flow r

164 Finally, the muHDBD-PID was employed to detect permanent gases and a sublist

165 aires registry (CEREDIH; the French national PID registry) for the occurrence of autoimmunity and inf

166 lk to signaling pathways in the KEGG and NCI-PID databases.

167 the literature (81% for KEGG and 78% for NCI-PID).

168 a set of more than 7000 pathway pairs in NCI-PID.

169 However, new PIDs are being discovered at an ever-increasing rate.

170 The targeted NGS PID gene panel is a sensitive and cost-effective diagnos

171 Nine PID-related genes proved not eligible for evaluation by

172 We have recently characterized a novel PID now named "X-linked immunodeficiency with magnesium

173 ndependent groups have begun to define novel PIDs caused by defects in the caspase recruitment domain

174 and PITT, have been prepared from the novel PIDs.

175 s of patients and the presence or absence of PID variants.

176 fic association with PID, the association of PID with ovarian cancer risk is still somewhat uncertain

177 regions of the genome in 886 index cases of PID found that disease-causing mutations in known genes

178 pectively screened 2183 consecutive cases of PID in the Centre de Reference Deficits Immunitaires Her

179 Thirty-six patients with 12 classes of PID diagnoses received 37 VST products before or after H

180 infected women to measure the development of PID.

181 nome-sequencing approach in the diagnosis of PID can increase diagnostic yield and further our unders

182 ex model is needed to explain the effects of PID.

183 Women with at least 2 episodes of PID had a 2-fold increased risk of borderline tumors (pO

184 among women who had had multiple episodes of PID.

185 Further studies of the etiology of PID in different age groups are required.

186 were associated with engraftment failure of PID-LSK.

187 Although the most severe forms of PID are identified in early childhood, most patients pre

188 Novel forms of PID were identified by using whole-exome sequencing or a

189 A history of PID was associated with an increased risk of borderline

190 OSoxy) with H4B to elucidate the kinetics of PID binding to the iNOS monomer and dimer.

191 of concurrently screening a large number of PID genes.

192 The PEFs of PID due to C. trachomatis decline steeply with age by a

193 ecific population excess fractions (PEFs) of PID due to C. trachomatis, using routine data, surveys,

194 our preferred estimates of the proportion of PID cases caused by C. trachomatis are 35% (95% credible

195 t risk factor for PID, but the proportion of PID cases caused by C. trachomatis is unclear.

196 cial for identifying a certain proportion of PID phenotypes and genotypes among descriptive diagnoses

197 p3r2-deficient mice displayed a reduction of PID frequency and overall PID burden and showed increase

198 tested CT-positive had an increased risk of PID (adjusted hazard ratio [aHR], 2.36; 95% confidence i

199 There is heterogeneity in the risk of PID after a chlamydia infection.

200 tested for chlamydia to estimate the risk of PID diagnosed in a primary care, outpatient, or inpatien

201 The increased risk of PID from reinfection was highest in younger individuals

202 gnosis of chlamydia had an increased risk of PID over their reproductive lifetime compared with those

203 Risk of PID, ectopic pregnancy, or female infertility were evalu

204 n is highly suggestive of a specific type of PID.

205 ing-based methods in the routine analyses of PIDs.

206 ical practice that should raise awareness of PIDs based on presenting skin manifestations.

207 ly reported on the updated classification of PIDs.

208 Through clustering of PIDs per skin disorder, we provide a support tool to use

209 oimmunity and inflammation in the context of PIDs, with a view to accurately assessing these risks an

210 us diseases specialists in the management of PIDs and improving the outcome of patients with PIDs.

211 In the management of PIDs, refinement of indication and strategies to hematop

212 The proportion of PIDs was much higher in children aged >2 years than in y

213 ble alternative for children with a range of PIDs.

214 Twenty-five patients with 12 types of PIDs received 26 HSCTs.

215 Remarkably, all types of PIDs were associated with a risk of autoimmune and infla

216 However, because of the variety of PIDs and pathogens involved, and because evidence is sca

217 Immunological Societies Expert Committee on PIDs recently reported on the updated classification of

218 espite services, online connections to other PID caregivers, and bedside mental health services.

219 yed a reduction of PID frequency and overall PID burden and showed increased neuronal survival after

220 There were 41 unique predicted pathogenic PID variants (1 homozygous, 5 hemizygous, and 35 heteroz

221 ere define a novel protein complex, PETISCO (PID-3, ERH-2, TOFU-6, and IFE-3 small RNA complex), that

222 ated by D6 PROTEIN KINASE (D6PK) and PINOID (PID)/WAG kinases of the Arabidopsis AGCVIII kinase famil

223 INASE (D6PK) and the BFA-insensitive PINOID (PID) phosphorylate and activate PIN1 through phosphoryla

224 For validation, we predicted PID rates in 4 age groups that agree well with surveilla

225 PIDTC analyze outcomes of treatment for rare PIDs in multicenter longitudinal retrospective, prospect

226 The rarer PID patients without chronic granulomatous disease (CGD)

227 ents in stroke and brain injury would reduce PID incidence and their adverse impact on outcome.

228 prevent 61% (95% CrI: 55, 67) of CT-related PID in women who became infected with CT.

229 TRAP150's PID directly inhibits the interaction of PSF RRMs with R

230 to safe and effective treatments for several PIDs, including forms of severe combined immune deficien

231 ffective in young adult patients with severe PID and should be considered the treatment of choice whe

232 d, thereby indicating suitability of the SMS-PID unit for field drone applications.

233 T cells as an alternative strategy for some PIDs and the potential of targeted gene correction using

234 Recognition of specific PID-associated skin conditions in combination with other

235 use showed no decreased risks of subsequent PID regardless of CT history.

236 model of focal ischemia to demonstrate that PIDs are associated with a strong increase of intracellu

237 It is known that PIDs can also predispose to cancer and immune diseases,

238 The PID risk was higher for women with 2 or more positive CT

239 The PID-LSK demonstrated decreased phosphorylation of extrac

240 ne regions of the amino acid sequence of the PID and engineer a highly soluble mutant that preserves

241 the same molecular defect that underlies the PID, such as syndromes of DNA repair deficiency or immun

242 Therefore, PIDs are triggered upon supply-demand mismatch transient

243 However, a systematic search for these PIDs has never been carried out in children presenting w

244 Studies of these PIDs have revealed a pivotal role for the actin cytoskel

245 nts that were previously reported to lead to PID.

246 Describing the progression to PID in mathematical models as an average rate may be an

247 one marrow and altered cell shape similar to PID-LSK cells in vitro and are completely defective in H

248 that mismatch predisposes stroke patients to PIDs as well.

249 related to local CBF changes in response to PIDs.

250 Factors triggering PIDs are unknown.

251 y activation of peri-infarct cortex triggers PIDs when the activated cortex is within a critical rang

252 ia or hypotension also reproducibly triggers PIDs.

253 in patients with previously uncharacterized PIDs has opened up the potential for targeted therapy di

254 signs could raise suspicion of an underlying PID.

255 resent the first manifestation of underlying PID.

256 ry analyses aimed at defining the underlying PID.

257 However, the cellular pathways underlying PIDs have remained unclear.

258 n mutations and 26 patients with undiagnosed PIDs.

259 total of 98 pediatric patients with various PIDs underwent HSCT with TCRalphabeta+/CD19+ graft deple

260 s had been enrolled by July 1, 2020, 60 with PID, 7 with other inborn errors of immunity including au

261 dy to identify loci that are associated with PID, and found evidence for the colocalization of-and in

262 icated a histotype-specific association with PID, the association of PID with ovarian cancer risk is

263 ide outcomes of COVID-19 in individuals with PID or symptomatic SID and determine risk factors associ

264 to document the outcomes of individuals with PID or symptomatic SID following COVID-19 in the United

265 In individuals with PID, 53.3% (32 of 60) were hospitalized, the infection-f

266 the general population, adult patients with PID and symptomatic SID display greater morbidity and mo

267 sidered as the first choice in patients with PID.

268 with SID had worse outcomes than those with PID; 75.8% (25 of 33) were hospitalized, the infection-f

269 Among women with PID, TLR variants that increase inflammation are associa

270 Adults with PIDs diagnosed during childhood experienced a heavy burd

271 d with the French normal values, adults with PIDs scored significantly lower for all HRQoL domains.

272 f gain-of-function mutations associated with PIDs has become well recognized and adds a new dimension

273 stem cell source of choice in children with PIDs undergoing transplantation with Flu/Melph RIC from

274 ed-methods study caregivers of children with PIDs were contacted in August to November 2017 through o

275 iven in conditioned (except 3) children with PIDs.

276 arental gonosomal mosaicism in families with PIDs with de novo mutations (n = 92), and (3) the incide

277 the incidence of mosaicism in families with PIDs with moderate-to-high suspicion of gene mosaicism (

278 detected in 30 (23.4%) of 128 families with PIDs, with a variable minor allele frequency (0.8% to 40

279 be the clinical use of VSTs in patients with PIDs at 4 centers.

280 ce in recognizing and managing patients with PIDs caused by CBM complex mutations.

281 h makes a genetic diagnosis in patients with PIDs complex and laborious.

282 and pattern of malignancies in patients with PIDs do not reflect an increased tumor immune escape per

283 f malignancy predisposition in patients with PIDs has been determined.

284 s and risks of malignancies in patients with PIDs in light of current tumor immune therapies.

285 art of tumor predisposition in patients with PIDs is derived from the same molecular defect as the im

286 f significant research done in patients with PIDs that has accelerated the quality of care of these p

287 Patients with PIDs who have received VST therapy on previous or curren

288 netic changes in the DNA of 41 patients with PIDs with known mutations and 26 patients with undiagnos

289 ting new treatment options for patients with PIDs, and advances are sure to continue.

290 te to investigate mosaicism in patients with PIDs, revealing that it affects approximately 25% of enr

291 eatment of viral infections in patients with PIDs.

292 first-line molecular assay in patients with PIDs.

293 eatment of viral infections in patients with PIDs.

294 s and improving the outcome of patients with PIDs.

295 incidence of gene mosaicism in patients with PIDs.

296 toimmunity and inflammation in patients with PIDs.

297 the Xist RNA Polycomb Interaction Domain (XR-PID), a 600 nt sequence encompassing the Xist B-repeat e

298 ally tethering hnRNPK to Xist RNA lacking XR-PID is sufficient for Xist-dependent Polycomb recruitmen

299 Deletion of XR-PID abolishes Xist-dependent Polycomb recruitment, in tu

300 A-binding protein hnRNPK as the principal XR-PID binding factor required to recruit PCGF3/5-PRC1.