ライフサイエンスコーパス: primary immunodeficiency

1 daptor MyD88 or the kinase IRAK4 suffer from primary immunodeficiency.

2 r (IL-21R) deficiencies as novel entities of primary immunodeficiency.

3 isease in children may be a manifestation of primary immunodeficiency.

4 tire spectrum of malignancies is not seen in primary immunodeficiency.

5 is also an underappreciated manifestation of primary immunodeficiency.

6 of lymphoid malignancy in the many types of primary immunodeficiency.

7 g RAG1 are associated with Omenn syndrome, a primary immunodeficiency.

8 th chronic skin granuloma in 3 children with primary immunodeficiency.

9 the X-linked lymphoproliferative disease, a primary immunodeficiency.

10 -linked lymphoproliferative disease (XLP), a primary immunodeficiency.

11 tly increases the diagnostic yield of severe primary immunodeficiency.

12 ogy, motility, and function, causing a novel primary immunodeficiency.

13 , and failure to thrive, but without obvious primary immunodeficiency.

14 ) T cell count in the setting of HIV/AIDS or primary immunodeficiency.

15 that lesions in this miRNA gene may lead to primary immunodeficiency.

16 d that its depletion underlies a novel human primary immunodeficiency.

17 ciated with infancy, AIDS, and IL-17-related primary immunodeficiencies.

18 responses and the characterization of human primary immunodeficiencies.

19 e combined immunodeficiency (SCID) and other primary immunodeficiencies.

20 y autoimmune diseases and even in those with primary immunodeficiencies.

21 homas, as the first manifestation of several primary immunodeficiencies.

22 e mechanisms of autoimmunity associated with primary immunodeficiencies.

23 senting symptoms and clinical course of many primary immunodeficiencies.

24 irus infection in hospitalized children with primary immunodeficiencies.

25 to analyse exome data from 24 patients with primary immunodeficiencies.

26 ences of norovirus shedding in patients with primary immunodeficiencies.

27 Stem-cell transplantation can cure primary immunodeficiencies.

28 that Xrcc2 defects could underlie some human primary immunodeficiencies.

29 iseases, including cancer, inflammation, and primary immunodeficiencies.

30 n several clinical examples of patients with primary immunodeficiencies.

31 coding components of the immune system cause primary immunodeficiencies.

32 une cytopenia is a frequent manifestation of primary immunodeficiencies.

33 horough evaluation for monogenic defects and primary immunodeficiencies.

34 estone in understanding the genetic basis of primary immunodeficiencies.

35 ects in the PI3K-triggered pathway can cause primary immunodeficiencies.

36 2.7%) was similar to that of admissions with primary immunodeficiency (19.4%; p = 0.41) but significa

37 Patients with primary immunodeficiencies affecting the NK and/or T cel

38 rs, new concepts of the relationship between primary immunodeficiencies and autoimmunity have develop

39 mechanisms have recently been found to link primary immunodeficiencies and autoimmunity, including i

40 d NK cell deficiency, which is unusual among primary immunodeficiencies and bone marrow failures, was

41 is a significant comorbidity associated with primary immunodeficiencies and can be the presenting fea

42 d molecular features that characterize these primary immunodeficiencies and discuss therapy options.

43 more than 265 genes in which mutations cause primary immunodeficiencies and rare forms of severe infl

44 We focused on genes associated with primary immunodeficiencies and related pathways.

45 ulome is enriched for genes mutated in human primary immunodeficiencies and with loci associated with

46 ptive and innate immune responses, including primary immunodeficiency and autoimmune diseases.

47 cing (WES) to detect an underlying monogenic primary immunodeficiency and potentially target therapy

48 ociated VDPVs (iVDPVs) from individuals with primary immunodeficiencies, and (3) ambiguous VDPVs (aVD

49 derived polioviruses (VDPVs) in persons with primary immunodeficiencies, and (b) polio outbreaks asso

50 ted with genetically altered HSCs, including primary immunodeficiencies, and should facilitate the st

51 Primary immunodeficiencies are a rare group of inborn di

52 The primary immunodeficiencies are attractive candidates for

53 Primary immunodeficiencies are often monogenic disorders

54 Although primary immunodeficiencies are quite rare in incidence,

55 Primary immunodeficiencies are rare but serious diseases

56 Syndromic primary immunodeficiencies are rare genetic disorders th

57 n, and monogenic defects in genes related to primary immunodeficiencies are responsible for the disea

58 These findings extend previous reports on primary immunodeficiencies as well as HIV disease by sug

59 IBD might mask an underlying primary immunodeficiency, as illustrated here with IL-21

60 uding increased homeostatic proliferation in primary immunodeficiencies associated with lymphopenia a

61 Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency associated with an increased su

62 Wiskott-Aldrich syndrome is a rare primary immunodeficiency associated with severe microthr

63 encies of MHC complex class I or II are rare primary immunodeficiencies, both of which are inherited

64 y improve humoral immunity in the setting of primary immunodeficiencies but also temper their dysregu

65 Mutations of Jak3 cause primary immunodeficiency, but Minegishi et al. now show

66 The realization that primary immunodeficiencies can also impair negative regu

67 ute to disease pathogenesis in patients with primary immunodeficiencies caused by mutations in compon

68 from chronic granulomatous disease (CGD), a primary immunodeficiency caused by a defect in the nicot

69 inked lymphoproliferative (XLP) disease is a primary immunodeficiency caused by a defect in the SH2D1

70 a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect leadi

71 tt-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency caused by absence of Wiskott-Al

72 Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective production

73 Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in any one of

74 The X-linked hyper-IgM syndrome (XHIM) is a primary immunodeficiency caused by mutations in CD40L, r

75 es of chronic granulomatous disease (CGD), a primary immunodeficiency caused by mutations in the NADP

76 iNKT are reduced in the primary immunodeficiency caused by mutations in the X-li

77 ed through the National Reference Center for Primary Immunodeficiencies (CEREDIH) registry.

78 at the French National Reference Center for Primary Immunodeficiencies (CEREDIH) were retrospectivel

79 recombination (Ig-CSR) deficiencies are rare primary immunodeficiencies characterized by defective sw

80 Hyper-IgM (HIGM) syndromes are primary immunodeficiencies characterized by defects of c

81 The hyper-IgE syndromes (HIES) are primary immunodeficiencies characterized by eczema, sino

82 f humans with monogenic mutations that cause primary immunodeficiencies characterized by impaired hum

83 witch recombination defects (CSR-D) are rare primary immunodeficiencies characterized by impaired pro

84 FOXN1 deficiency is a primary immunodeficiency characterized by athymia, alope

85 cause chronic granulomatous disease (CGD), a primary immunodeficiency characterized by dysfunctional

86 inked lymphoproliferative disease (XLP) is a primary immunodeficiency characterized by extreme suscep

87 tions in human IL-2Rgammac result in SCID, a primary immunodeficiency characterized by greatly reduce

88 er domain of NEMO that result in an X-linked primary immunodeficiency characterized by hyper-IgM synd

89 milial hemophagocytic lymphohistiocytosis, a primary immunodeficiency characterized by impaired lytic

90 hematopoietic cells, cause WAS, an X-linked primary immunodeficiency characterized by recurrent infe

91 The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin

92 Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by serious infect

93 Omenn syndrome (OS) is an atypical primary immunodeficiency characterized by severe autoimm

94 ptibility to mycobacterial disease is a rare primary immunodeficiency characterized by severe infecti

95 Omenn's syndrome is an autosomal recessive primary immunodeficiency characterized by variable numbe

96 n cause of infection in individuals with the primary immunodeficiency chronic granulomatous disease (

97 Primary immunodeficiencies comprise many diseases caused

98 (CARD9) deficiency is an autosomal recessive primary immunodeficiency conferring human susceptibility

99 Primary immunodeficiencies consist to a large extent of

100 Optimal cost-effective therapy for primary immunodeficiencies continues to be defined, with

101 ur hundred genes and regions associated with primary immunodeficiency, covering approximately 6500 co

102 The field of primary immunodeficiency disease (PIDD) has expanded rem

103 Activated PI3K Delta Syndrome (APDS) is a primary immunodeficiency disease caused by activating mu

104 X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations of

105 y in Japan is reaching out regionally to the primary immunodeficiency disease community and internati

106 We present PIDO, the primary immunodeficiency disease ontology.

107 here is urgent need for the establishment of primary immunodeficiency disease registries, stem cell t

108 n infantile onset of the autosomal recessive primary immunodeficiency disease veno-occlusive disease

109 The most profound primary immunodeficiency disease, severe combined immuno

110 r hematopoietic stem cell transplantation in primary immunodeficiency disease.

111 pecific incidence of cancer in subjects with primary immunodeficiency diseases (PIDD) enrolled in the

112 Primary immunodeficiency diseases (PIDDs) are clinically

113 Primary immunodeficiency diseases (PIDDs) are inherited

114 ideration of many patients suspected to have primary immunodeficiency diseases (PIDDs) is the applica

115 REVIEW: Neutropenia is a feature of several primary immunodeficiency diseases (PIDDs).

116 Primary immunodeficiency diseases (PIDs) are Mendelian c

117 Analyses of other genes mutated in primary immunodeficiency diseases (PIDs) where reversion

118 The rapid increases in newly recognized primary immunodeficiency diseases (PIDs), including thei

119 hniques are an essential diagnostic tool for primary immunodeficiency diseases (PIDs).

120 d the genetic characterization of many human primary immunodeficiency diseases (PIDs).

121 he cornerstone of treatment in patients with primary immunodeficiency diseases affecting the humoral

122 s progress in the study of rare variants and primary immunodeficiency diseases arising from whole-exo

123 globulin is used as a replacement therapy in primary immunodeficiency diseases as well as an immunomo

124 f B-lineage acute lymphoblastic leukemia and primary immunodeficiency diseases characterized by agamm

125 Primary immunodeficiency diseases comprise a group of he

126 ic studies implicate STATs in autoimmune and primary immunodeficiency diseases in humans.

127 Identification of the genetic causes of primary immunodeficiency diseases revealed that Th17 cel

128 Physicians caring for patients with primary immunodeficiency diseases were identified throug

129 side other symptoms in patients with various primary immunodeficiency diseases with diverse genetic d

130 Children with primary immunodeficiency diseases, particularly those le

131 ws for emergence of many autosomal recessive primary immunodeficiency diseases.

132 pplications for the domain of immunology and primary immunodeficiency diseases.

133 t studies to determine optimal therapies for primary immunodeficiency diseases.

134 that study the treatment of rare and severe primary immunodeficiency diseases.

135 These results provide evidence of a primary immunodeficiency disorder associated with organ-

136 The Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder caused by a mutation i

137 X-linked hyper IgM syndrome (XHIM) is a primary immunodeficiency disorder caused by mutations of

138 agocytic lymphohistiocytosis (HLH) is a rare primary immunodeficiency disorder characterized by defec

139 es are X-linked hyper-IgM syndrome (XHIM), a primary immunodeficiency disorder characterized by low l

140 ctions, and myelokathexis (WHIM) syndrome, a primary immunodeficiency disorder characterized by neutr

141 hronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of phagocytes resultin

142 e now identified a cohort of patients with a primary immunodeficiency disorder whose B cells oppose E

143 inase 1 (MST1) loss of function with a human primary immunodeficiency disorder, suggesting that MST1

144 sociated panuveitis, and another patient had primary immunodeficiency disorder.

145 Primary immunodeficiency disorders (PIDs) represent a ra

146 nd manifest earlier in life in patients with primary immunodeficiency disorders (PIDs) than in the ge

147 made in the past decade in treating several primary immunodeficiency disorders (PIDs) with gene ther

148 used in the transplantation of patients with primary immunodeficiency disorders (PIDs), but there are

149 t has been implicated in the pathogenesis of primary immunodeficiency disorders and cancer.

150 Recent research on primary immunodeficiency disorders and the identificatio

151 Although it may seem paradoxical, primary immunodeficiency disorders are frequently compli

152 Primary immunodeficiency disorders enable identification

153 asma and have been used for the treatment of primary immunodeficiency disorders for more than 25 year

154 understanding of the molecular basis of the primary immunodeficiency disorders has led to improvemen

155 ined, and new molecular defects that lead to primary immunodeficiency disorders have also been report

156 Previous reports about primary immunodeficiency disorders have shown variations

157 on may have utility if newborn screening for primary immunodeficiency disorders is initiated.

158 In addition, other types of primary immunodeficiency disorders might be associated w

159 is for and manifestations of autoimmunity in primary immunodeficiency disorders to more effectively c

160 linemia, Wiskott-Aldrich syndrome, and other primary immunodeficiency disorders.

161 ar characterization and the treatment of the primary immunodeficiency disorders.

162 nts with clinical and laboratory evidence of primary immunodeficiency do not have a gene specific dia

163 HIES are primary immunodeficiencies due to monogenetic defects su

164 Hermansky-Pudlak syndrome type 2 (HPS2) is a primary immunodeficiency due to adaptor protein-3 (AP-3)

165 n a well recognized finding in patients with primary immunodeficiencies for many years.

166 In contrast to primary immunodeficiencies, fundamental immunodeficiency

167 s discovered in all known IBD-associated and primary immunodeficiency genes in both siblings.

168 Hematologic malignancy and primary immunodeficiency had greater risk for mortality

169 methods based on genetic overlap with human primary immunodeficiency, haematological cancer somatic

170 dentification of the molecular etiologies of primary immunodeficiencies has led to important insights

171 of mutated genes that cause various types of primary immunodeficiencies has significantly advanced ou

172 The molecular mechanisms of the primary immunodeficiencies have been further explored an

173 Individuals with these primary immunodeficiencies have fewer immunoglobulin M (

174 Monogenic disorders leading to primary immunodeficiency have fascinated scientists and

175 em cell transplantation and gene therapy for primary immunodeficiency have had relative success; the

176 CH2 mutations that cause Mendelian monogenic primary immunodeficiency have not previously been identi

177 admissions with underlying nonmalignant non-primary immunodeficiency hematologic disease (15.4%; p =

178 re more than 180 different genetic causes of primary immunodeficiencies identified to date.

179 import receptor TfR1 as the cause of a human primary immunodeficiency, illuminating the importance of

180 For several primary immunodeficiencies, improved outcomes have been

181 containing and centralizing knowledge about primary immunodeficiencies in both a human- and computer

182 We sought to identify the cause of the primary immunodeficiency in 2 young adult siblings with

183 sorder (CVID) is the most common symptomatic primary immunodeficiency in adults, characterized by B-c

184 bulin A deficiency (IgAD) is the most common primary immunodeficiency in Europeans.

185 dmitted to the national reference center for primary immunodeficiency in France between 2006 and 2010

186 ic granulomatous disease is a rare inherited primary immunodeficiency in which phagocytes cannot dest

187 Progress in the treatment of primary immunodeficiencies included increased success wi

188 unction may prove useful in the diagnosis of primary immunodeficiencies including familial hemophagoc

189 ce was investigated in patients with several primary immunodeficiencies, including common variable im

190 Early detection of primary immunodeficiency is recognized as important for

191 as it pertains to the study and treatment of primary immunodeficiencies, is the content of this revie

192 frequencies in large numbers of MS patients, primary immunodeficiencies linked to major histocompatib

193 TPP2 deficiency is the first primary immunodeficiency linking premature immunosenesce

194 We conclude that IFIH1 deficiency causes a primary immunodeficiency manifested in extreme susceptib

195 with chronic granulomatous disease (CGD), a primary immunodeficiency marked by a defect in NOX2, the

196 Thus, mutations associated with primary immunodeficiencies may cause disease by disrupti

197 mmon variable immunodeficiency (CVID) is the primary immunodeficiency most commonly encountered in cl

198 Impaired immune functions leading to primary immunodeficiencies often correlate with paradoxi

199 Eight patients had primary immunodeficiencies or blood disorders, while 4 o

200 downstream transcription factors that cause primary immunodeficiency or autoimmune conditions.

201 d the function of NOX in human patients with primary immunodeficiency other than chronic granulomatou

202 late effects and enable SCT in virtually any primary immunodeficiency patient with a matched donor.

203 nodeficiency represents the largest group of primary immunodeficiency patients.

204 ed therapies for autoimmune complications in primary immunodeficiency patients.

205 In the present study, we report a primary immunodeficiency phenotype associated with MST1

206 mmunoglobulin (IGSC) replacement therapy for primary immunodeficiency (PI) is equally efficacious to

207 Primary immunodeficiencies (PID) are characterized by an

208 Primary immunodeficiency (PID) disorders are a heterogen

209 Primary immunodeficiency (PID) patients suffer recurrent

210 PURPOSE OF REVIEW: Primary immunodeficiencies (PIDs) are an often-devastati

211 Primary immunodeficiencies (PIDs) are inherited diseases

212 Some primary immunodeficiencies (PIDs) are known to confer pr

213 The characterization of primary immunodeficiencies (PIDs) in human subjects is c

214 ber of contributions to our understanding of primary immunodeficiencies (PIDs) in pathogenesis, diagn

215 Most children with primary immunodeficiencies (PIDs) now reach adulthood.

216 Primary immunodeficiencies (PIDs) represent exquisite mo

217 Primary immunodeficiencies (PIDs) that predispose to EBV

218 Genetic mutations cause primary immunodeficiencies (PIDs) that predispose to inf

219 We review the primary immunodeficiencies (PIDs) underlying an increasi

220 the 232 monogenic etiologies (21%) of human primary immunodeficiencies (PIDs) were initially reporte

221 leading fatal complication for patients with primary immunodeficiencies (PIDs) who require hematopoie

222 eatment for children with a wide spectrum of primary immunodeficiencies (PIDs), but outcome is heavil

223 The primary immunodeficiencies (PIDs), rare inherited diseas

224 d mortality in the majority of patients with primary immunodeficiencies (PIDs), the application of a

225 (HSCT) is used as a therapeutic approach for primary immunodeficiencies (PIDs).

226 cytopenia and represent key features of many primary immunodeficiencies (PIDs).

227 with the most extreme cases being Mendelian primary immunodeficiencies (PIDs).

228 range of defects that occur in actin-related primary immunodeficiencies (PIDs).

229 were mostly related to the expanding area of primary immunodeficiencies (PIDs).

230 of loci, including genes known to cause the primary immunodeficiencies (PIDs).

231 ed analysis of inflammatory disease GWAS and primary immunodeficiencies point to shared proteins and

232 roenteric virus contamination in a pediatric primary immunodeficiency (PPI) ward and a general pediat

233 ted families of different ethnicities with a primary immunodeficiency, predominantly manifesting as s

234 stem cells were developed from patients with primary immunodeficiencies, providing a virtually unlimi

235 the RAG1/2 genes result in various forms of primary immunodeficiency, ranging from T(-)B(-) severe c

236 IL-21 and IL-21R deficiencies cause severe, primary immunodeficiency reminiscent of common variable

237 Primary immunodeficiencies represent model diseases for

238 Human primary immunodeficiencies resulting from monogenic muta

239 preparative regimen (RR = 3.1, P = .03) and primary immunodeficiency (RR = 2.5, P = .06).

240 f various infectious arthritides in selected primary immunodeficiency states.

241 Netherton syndrome has been proposed to be a primary immunodeficiency syndrome because of the high fr

242 cently shown that DOCK8, a gene mutated in a primary immunodeficiency syndrome, is involved in NK cel

243 aling pathway as a genetic etiology for this primary immunodeficiency syndrome.

244 STK4 deficiency is a novel human primary immunodeficiency syndrome.

245 The link between autoimmune diseases and primary immunodeficiency syndromes has been increasingly

246 to the limelight because it can be linked to primary immunodeficiency syndromes with autoimmunity.

247 Primary immunodeficiencies that affect the innate immune

248 , we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented

249 Chronic granulomatous disease (CGD) is a primary immunodeficiency that affects phagocytes of the

250 ezrin-radixin-moesin protein mutation and a primary immunodeficiency that could be referred to as X-

251 n the absence of ATM, humans and mice show a primary immunodeficiency that includes low serum antibod

252 iskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency that is caused by mutations in

253 tt-Aldrich Syndrome (WAS) is a rare X-linked primary immunodeficiency that is characterized by recurr

254 We conclude that XIAP deficiency is a unique primary immunodeficiency that is more appropriately clas

255 Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency that manifests as increased sus

256 variable immunodeficiency is the most common primary immunodeficiency that needs medical attention.

257 arameter for the diagnosis and management of primary immunodeficiency." This is a complete and compre

258 rameters for the diagnosis and management of primary immunodeficiencies to guide the clinician in the

259 This review focuses on recently identified primary immunodeficiencies to illustrate the strategies,

260 At the annual meeting of the Primary Immunodeficiency Treatment Consortium held in Bo

261 ent on surfaces and equipment in a pediatric primary immunodeficiency unit (PPIU) by environmental sa

262 f astrovirus gastroenteritis occurred in the Primary Immunodeficiency Unit at Newcastle General Hospi

263 and in environmental swabs from a pediatric primary immunodeficiency unit in London, United Kingdom,

264 ons performed at our center in children with primary immunodeficiency using a reduced-intensity condi

265 characterization of genetic defects causing primary immunodeficiencies was essential in understandin

266 ng patients with genetically uncharacterized primary immunodeficiencies, we detected 2 novel nonsense

267 ile is not observed in a wide range of other primary immunodeficiencies, we hypothesized that recurre

268 Selected primary immunodeficiencies were chosen, the genetic defe

269 munologic mechanisms and clinical studies of primary immunodeficiencies were most prevalent in 2011.

270 s and managing the risks of individuals with primary immunodeficiencies who can excrete vaccine-deriv

271 ents underwent stem-cell transplantation for primary immunodeficiencies with an MIC regimen consistin

272 amma receptor 1 (IFNgammaR1) deficiency is a primary immunodeficiency with allelic dominant and reces

273 ed reticulate pigmentary disorder (XLPDR), a primary immunodeficiency with autoinflammatory features.

274 X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortali

275 r findings define a new clinical entity of a primary immunodeficiency with increased susceptibility t

276 Patients with the primary immunodeficiency X-linked lymphoproliferative di