ライフサイエンスコーパス: WAS

1 WAS and XLT are caused by mutations of the Wiskott-Aldri

2 WAS gene transfer in B cells was assessed by measuring v

3 WAS induced Fos expression in 35% of NUCB2/nesfatin-1-im

4 WAS is caused by a mutation in the gene encoding the cyt

5 WAS is caused by mutations in an intracellular protein,

6 WAS KO mice showed reduced viral clearance and enhanced

7 WAS patients display increased expression of type-I IFN

8 WAS patients lack WAS protein (WASP), suggesting that WA

9 WAS protein (WASp)-deficient B cells have increased B ce

10 WAS(-/-) CD4(+) T cells mediated protective T-helper 1 (

11 WAS(-/-) CD4(+) T cells up-regulated IL-4 and GATA3 mRNA

12 WAS(-/-) Th2s failed to produce IL-4 protein on restimul

13 nal importance of WASp was investigated in 2 WAS brothers who show no detectable expression of WASp.

14 AND THE INTRINSIC SYSTEMIC ELIMINATION T1/2 WAS CALCULATED TO BE APPROXIMATELY 2 HOURS.

15 VITREOUS ELIMINATION HALF-LIFE (T1/2) WAS CALCULATED TO BE 9 DAYS AND THE INTRINSIC SYSTEMIC E

16 ations, 71 not previously reported, from 227 WAS/XLT families with a total of 262 affected members.

17 eltrombopag, immature platelet fraction in 3 WAS/XLT patients was significantly less increased compar

18 Platelet activation did not improve in 3 WAS/XLT patients whose platelet count improved on eltrom

19 tibodies isolated from single B cells from 4 WAS patients before and after gene therapy (GT).

20 In 9 WAS/XLT patients and 8 age-matched healthy controls, pla

21 PMNs from a WAS patient manifested similar defects in integrin clust

22 ed a marked selective advantage in vivo in a WAS patient with a spontaneous revertant mutation, indic

23 in bone marrow and the periphery, showing a WAS protein expression profile similar to that of health

24 f octylglucoside-permeabilized and activated WAS platelets, similar to its effect in WASp-expressing

25 iviral vector is a viable strategy for adult WAS patients with severe chronic disease complications a

26 Interactions between the Wiskott-Aldrich (WAS) protein (WASp), small GTPases, and the cytoskeletal

27 trials targeting ADA-SCID, SCID-X1, CGD and WAS, review the pitfalls, and outline the recent advance

28 y and composition in WASp-deficient mice and WAS subjects (n = 12).

29 ming to draining lymph nodes was reduced and WAS KO DCs failed to localize efficiently in T-cell area

30 multiple samples from patients with XLT and WAS and in normal T cells depleted of WASp.

31 te that when crossed to a C57/B6 background, WAS-deficient males show little if any colitis and relia

32 exin V binding showed no differences between WAS/XLT and controls.

33 The molecular link between WAS mutations and microthrombocytopenia is unknown.

34 lysensitization to food was detected in both WAS and food-allergic patients which was recapitulated i

35 penia and X-linked neutropenia are caused by WAS gene mutations, each having a distinct pattern of cl

36 nd X-linked neutropenia, which are caused by WAS mutations affecting Wiskott-Aldrich syndrome protein

37 preprimed wild-type CD4(+) T lymphocytes by WAS KO DCs in vitro was also abrogated, suggesting that

38 g of both CD4(+) and CD8(+) T lymphocytes by WAS KO DCs preloaded with antigen was significantly decr

39 IFN-I production by WAS KO DCs was reduced both in vivo and in vitro.

40 hough the spectrum of infections suffered by WAS patients is consistent with defects in neutrophil (P

41 to the clinical immunodeficiency suffered by WAS patients.

42 actin dynamics in hematopoietic cells, cause WAS, an X-linked primary immunodeficiency characterized

43 standing the effects of mutations that cause WAS.

44 h three WASP missense mutants known to cause WAS.

45 ) cells expressing different disease-causing WAS mutations, we demonstrated that hSWI/SNF-like comple

46 Classic WAS, X-linked thrombocytopenia and X-linked neutropenia

47 MM IN 10 SECONDS, ACTIVE DILATOR CONTRACTION WAS APPLIED BY IMPOSING STRESS IN THE DILATOR REGION.

48 Cytoplasmic WAS proteins act as effectors of Rho family GTPases and

49 It is caused by defective WAS protein (WASp).

50 measured after infection of WASP-deficient (WAS KO) mice with lymphocytic choriomeningitis virus (LC

51 D ON THE AVERAGE VALUES OF OCULAR DIMENSIONS WAS DEVELOPED TO SIMULATE PUPIL DILATION.

52 ons up to 2.13 mg N/L substantially enhanced WAS solubilization, with the highest solubilization (0.1

53 rstand the mechanisms in which CAPB enhances WAS aerobic digestion performance.

54 unctions of Wiskott-Aldrich syndrome family (WAS) proteins are well established and include roles in

55 As has been reported for WAS and some cases of XLT, almost total inactivation of

56 o define the cell intrinsic requirements for WAS protein (WASp) in central versus peripheral B-cell d

57 s (B/WcKO) have revealed a critical role for WAS protein (WASP) expression in B lymphocytes in the ma

58 enhanced performance of the STAD system for WAS aerobic treatment.

59 The first attempts at gene therapy for WAS using a Upsilon-retroviral vector improved immunolog

60 o evaluate the potential of gene therapy for WAS.

61 ND-huWASp LV for a future clinical trial for WAS.

62 in the mechanisms that lead in disease-free WAS carriers to preferential survival/proliferation of c

63 NK cells from WAS patients fail to form lytic synapses, however, the f

64 NK cells from WAS patients lacked expression of WASp and accumulated F

65 fects seen in the activation of T cells from WAS patients may be due to the inability of these cells

66 In contrast, mature naive B cells from WAS patients were enriched in self-reactive clones, reve

67 NK cells isolated from WAS patient spleen cells showed increased expression of

68 mouse platelets and platelets isolated from WAS patients contained abnormally organized and hypersta

69 of resting primary lymphocytes isolated from WAS patients in the absence of exogenous apoptogenic sti

70 toskeletal abnormalities in lymphocytes from WAS patients.

71 ome activation is enhanced in monocytes from WAS patients and in WAS-knockout mouse dendritic cells.

72 or HNO2) to enhance methane production from WAS.

73 an hematopoietic cytoskeletal regulator gene WAS.

74 ations of the Wiskott-Aldrich syndrome gene (WAS) are responsible for Wiskott-Aldrich syndrome (WAS),

75 ations in the Wiskott-Aldrich syndrome gene (WAS), which have a broad impact on many different proces

76 y and autoimmunity often comanifest, yet how WAS mutations misregulate chromatin-signaling in Thelper

77 engthen the analogy between murine and human WAS and provide a basis for the use of WAS-deficient mic

78 ly explains the autoimmune features in human WAS.

79 no such deficiency in either mouse or human WAS protein (WASp)-deficient lymphocytes.

80 In WAS/XLT the platelets are usually small, and bleeding is

81 al in the hematopoietic lineages affected in WAS.

82 hanced in monocytes from WAS patients and in WAS-knockout mouse dendritic cells.

83 ayers in the pathogenesis of autoimmunity in WAS.

84 atelet activation, and/or reduce bleeding in WAS/XLT patients.

85 as also found that the actin cytoskeleton in WAS platelets is capable of producing the hallmark cytoa

86 analysis revealed accelerated cell death in WAS lymphocytes as evidenced by increased caspase-3 acti

87 underlying the platelet formation defect in WAS patients.

88 The gene defective in WAS encodes Wiskott-Aldrich syndrome protein (WASP).

89 hown that WAS patients and mice deficient in WAS protein (WASP) frequently develop IgE-mediated react

90 ent T-cell lymphopenia has been described in WAS, however, the diversity of the T-cell compartment ov

91 immunity and cytotoxicity was documented in WAS KO mice by means of temporal enumeration of total an

92 Because immune dysfunction in WAS may be due to an accelerated destruction of lymphocy

93 icism may have different clinical effects in WAS.

94 by which the progressive immunodeficiency in WAS patients develops.

95 anism underlying the recurrent infections in WAS patients.

96 agocytic defects and recurrent infections in WAS patients.

97 was no apparent difference in morphology in WAS platelets after stimulation by these agonists.

98 n (WASP), the product of the gene mutated in WAS.

99 odeficiency disorder caused by a mutation in WAS protein (WASp) that results in defective actin polym

100 , both arise from nonsynonymous mutations in WAS, which encodes a hematopoietic-specific WASp.

101 s that the accelerated apoptosis observed in WAS lymphocytes was not secondary to an underlying defec

102 tribute to the clinical features observed in WAS patients.

103 ASP-positive hematopoietic cells observed in WAS-heterozygous female humans.

104 e to the clinical manifestations observed in WAS.

105 the reduced platelet activation observed in WAS/XLT is primarily due to the microthrombocytopenia; a

106 sting an up-regulation in the FAS pathway in WAS lymphocytes.

107 ayer in the onset of autoimmune phenomena in WAS disease.

108 s defect leads to autoantibody production in WAS protein-deficient (WASp(-/-)) mice without overt dis

109 ion was uncoupled from protein production in WAS(-/-) Th2-primed effectors.

110 g-induced increase in platelet production in WAS/XLT is less than in ITP, eltrombopag has beneficial

111 her the altered B-cell tolerance reported in WAS patients and Was knockout (WKO) mice is secondary to

112 arrays of individual genotypic revertants in WAS patients and offer opportunities for further underst

113 ype-I interferon (IFN) levels play a role in WAS autoimmunity.

114 glycoprotein (GP) IIb-IIIa and P-selectin in WAS/XLT patients were proportional to platelet size and

115 in B cell-intrinsic, BCR, and TLR signals in WAS, and likely other autoimmune disorders, are sufficie

116 transitional to naive mature B cell stage in WAS subjects.

117 may represent a novel therapeutic target in WAS.

118 by GT is able to restore B cell tolerance in WAS patients.

119 nsights into the loss of immune tolerance in WAS.

120 Intriguingly, XLT evolves into WAS in some patients but not in others; yet the biologic

121 WAS patients lack WAS protein (WASP), suggesting that WASP is required for

122 p homology1 (EVH1) domain preserve low-level WAS protein (WASp) expression and confer a milder clinic

123 n defined, although both immature and mature WAS knockout (KO) DCs exhibit significant abnormalities

124 undetectable WAS protein (WASP), but normal WAS sequence and messenger RNA levels.

125 rotrusions was reduced in CIP4-null, but not WAS(-), megakaryocytes.

126 f the 24 tested patients, and the absence of WAS protein was confirmed in all 10 investigated cases.

127 ygous mutations predictive of the absence of WAS protein were identified in 19 of the 24 tested patie

128 we studied migration and priming activity of WAS KO DCs in vivo after adoptive transfer into wild-typ

129 ciated with defective suppressor activity of WAS protein-deficient, naturally occurring CD4(+)CD25(+)

130 atment of choice; however, administration of WAS gene-corrected autologous hematopoietic stem cells h

131 Flow cytometry analysis of WAS protein (WASP) expression has shown that these patie

132 uired for the development of autoimmunity of WAS and may represent a novel therapeutic target in WAS.

133 n ARPC1B has now been observed as a cause of WAS, whereas mutations in other, more widely expressed,

134 l signaling defect that is characteristic of WAS.

135 utrophil (PMN) function, the consequences of WAS protein (WASp) deficiency on this innate immune cell

136 e hematologic and functional deficiencies of WAS knockout mice.

137 drome protein (WASp) underlie development of WAS, an X-linked immunodeficiency and autoimmunity disor

138 ld be suspected in patients with features of WAS in whom WAS sequence and mRNA levels are normal.

139 ciated with impaired suppressive function of WAS regulatory T cells.

140 ata on a 14-month-old girl with a history of WAS in her family who presented with thrombocytopenia, s

141 elp us to understand the immunodeficiency of WAS.

142 15 years of age regardless of the levels of WAS protein (WASP) expression.

143 ymphocytes expressed nearly normal levels of WAS protein.

144 t not platelet activation in the majority of WAS/XLT patients.

145 Manifestations of WAS include thrombocytopenia, eczema, and immunodeficien

146 te to the autoinflammatory manifestations of WAS, thereby identifying potential targets for therapeut

147 Transplantation studies of a murine model of WAS deficiency have been limited by the occurrence of a

148 deficiency disease arising from mutations of WAS protein (WASP), a hemopoietic cytoskeletal protein.

149 olymerization and implicated in the onset of WAS and X-linked thrombocytopenia.

150 cell types contribute to the pathologies of WAS.

151 r understanding of the clinical phenotype of WAS and suggest that gene therapy might be a useful appr

152 The clinical phenotype of WAS includes susceptibility to infection, allergy, autoi

153 r similarities in the clinical phenotypes of WAS and DOCK8 deficiency.

154 olysis rate and/or poor methane potential of WAS.

155 Pretreatment of WAS for 24 h at FNA concentrations up to 2.13 mg N/L sub

156 ude environmental confounders as a result of WAS protein (WASp) deficiency, we studied migration and

157 sent study identifies a distinct subgroup of WAS patients with early-onset, life-threatening manifest

158 isplayed thrombocytopenia similar to that of WAS(-) mice.

159 human WAS and provide a basis for the use of WAS-deficient mice to explore novel approaches for corre

160 ombocytopenia (XLT) is an allelic variant of WAS which presents with a milder phenotype, generally li

161 kely that XLTT is another allelic variant of WAS/XLT and strongly suggest that X-linked thrombocytope

162 s for SCID, and enrollment in the studies on WAS and CGD is underway.

163 RONCHI DIVISIONS OTHER THAN THE TYPICAL ONES WAS IN: right upper lobar bronchi 45%, left 55%; middle

164 s performed in patients with food allergy or WAS.

165 derived promoter, MND, or the human proximal WAS promoter (WS1.6) for human WASp expression.

166 low F-actin content in T cells from the R86H WAS patient.

167 SYSTEMIC-TO-VITREOUS EXPOSURE RATIO WAS ESTIMATED TO BE 1: 90,000.

168 flow cytometry to have 10% to 15% revertant, WAS protein-expressing lymphocytes in his blood.

169 lenectomized 30-year-old patient with severe WAS manifesting as cutaneous vasculitis, inflammatory ar

170 aerobic digestion of waste activated sludge (WAS) in short-time aerobic digestion (STAD) systems.

171 aerobic digestion of waste activated sludge (WAS) is currently enjoying renewed interest due to the p

172 Hot-spot WAS mutations Thr45Met and Arg86Cys, which result in XLT

173 atin 1 neurons after water avoidance stress (WAS).

174 THE AIM OF THIS STUDY WAS TO ASSESS PATHWAYS, BY WHICH ODONTOGENIC INFECTIONS

175 ent with increased apoptotic susceptibility, WAS lymphocytes had markedly attenuated Bcl-2 expression

176 th food allergy or Wiskott-Aldrich syndrome (WAS) and defined whether spontaneous disease in Was(-/-)

177 Because Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) patients have m

178 ent affected with Wiskott--Aldrich syndrome (WAS) caused by a 6-bp insertion (ACGAGG) in the WAS prot

179 Wiskott-Aldrich Syndrome (WAS) family proteins are Arp2/3 activators that mediate

180 s of the conserved Wiskott-Aldrich syndrome (WAS) family, promote actin polymerization by activating

181 e immunodeficiency Wiskott-Aldrich syndrome (WAS) frequently develop systemic autoimmunity.

182 Patients with Wiskott-Aldrich syndrome (WAS) have numerous immune cell deficiencies, but it rema

183 d immunodeficiency Wiskott-Aldrich syndrome (WAS) have opposite alterations at central and peripheral

184 The Wiskott-Aldrich syndrome (WAS) interacting protein (WIP) stabilizes the WAS protei

185 Wiskott-Aldrich syndrome (WAS) is a platelet/immunodeficiency disease arising from

186 Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency associated with an in

187 The Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder caused by a

188 Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency that manifests as inc

189 Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency caused

190 The Wiskott-Aldrich Syndrome (WAS) is a rare X-linked primary immunodeficiency that is

191 Wiskott-Aldrich syndrome (WAS) is a severe X-linked immunodeficiency characterized

192 Wiskott-Aldrich syndrome (WAS) is an inherited immunodeficiency characterized by h

193 Wiskott-Aldrich syndrome (WAS) is an X-linked disease characterized by thrombocyto

194 The Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by immune dys

195 Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency caused by mutations

196 Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by mi

197 Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by th

198 Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency disorder frequently

199 The Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency that is cau

200 Wiskott Aldrich syndrome (WAS) is an X-linked recessive disorder associated with a

201 Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by

202 Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by

203 The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immune deficiency disorder

204 Wiskott-Aldrich syndrome (WAS) is associated with mutations in the WAS protein (WA

205 Wiskott-Aldrich syndrome (WAS) is caused by loss-of-function mutations in the WASp

206 Wiskott-Aldrich syndrome (WAS) is caused by mutations in the WAS gene and is chara

207 Wiskott Aldrich syndrome (WAS) is caused by mutations in the WAS gene that encodes

208 The Wiskott-Aldrich syndrome (WAS) is characterized by defective cytoskeletal dynamics

209 eficiency disorder Wiskott-Aldrich syndrome (WAS) leads to life-threatening hematopoietic cell dysfun

210 he immune disorder Wiskott-Aldrich Syndrome (WAS) map primarily to the Enabled/VASP homology 1 (EVH1)

211 ncy, patients with Wiskott-Aldrich syndrome (WAS) often suffer from poorly understood exaggerated imm

212 nes derived from a Wiskott-Aldrich syndrome (WAS) patient identified by flow cytometry to have 10% to

213 n lymphocytes from Wiskott-Aldrich syndrome (WAS) patient, we find no such deficiency in either mouse

214 Wiskott-Aldrich syndrome (WAS) patients have loss-of-function mutations in the act

215 HSCT) corrects the Wiskott-Aldrich syndrome (WAS) phenotype.

216 Mutations in Wiskott-Aldrich syndrome (WAS) protein (WASp), a regulator of actin dynamics in he

217 n to interact with Wiskott-Aldrich syndrome (WAS) protein, is an important regulator of actin remodel

218 r-old patient with Wiskott-Aldrich syndrome (WAS) who experienced progressive clinical improvement an

219 re responsible for Wiskott-Aldrich syndrome (WAS), a disease characterized by thrombocytopenia, eczem

220 Wiskott-Aldrich syndrome (WAS), an immunodeficiency disorder, and X-linked thrombo

221 from patients with Wiskott-Aldrich syndrome (WAS), an X chromosome-linked immunodeficiency disorder.

222 Wiskott Aldrich syndrome (WAS), an X-linked immunodeficiency, results from loss-of

223 deficiency (SCID), Wiskott-Aldrich syndrome (WAS), and chronic granulomatous disease (CGD).

224 The Wiskott-Aldrich syndrome (WAS), caused by mutations in the WAS gene, is a complex

225 In Wiskott-Aldrich syndrome (WAS), immunodeficiency and autoimmunity often comanifest

226 showed features of Wiskott-Aldrich syndrome (WAS), including recurrent infections, eczema, thrombocyt

227 y of patients with Wiskott-Aldrich Syndrome (WAS), Mahlaoui et al have identified severe refractory t

228 from patients with Wiskott-Aldrich Syndrome (WAS), that is, who lack WASp, and in WASp-deficient mous

229 160 patients with Wiskott-Aldrich syndrome (WAS), we identified a subset of infants who were signifi

230 rbors the gene for Wiskott-Aldrich syndrome (WAS), we investigated mutations in the WASP gene, as the

231 -cell phenotype in Wiskott-Aldrich syndrome (WAS), we used 3 distinct murine in vivo models to define

232 Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia (XLT), and X-linked neut

233 oms reminiscent of Wiskott-Aldrich syndrome (WAS).

234 urative option for Wiskott-Aldrich syndrome (WAS).

235 o the pathology of Wiskott-Aldrich syndrome (WAS).

236 ficiency disorder, Wiskott-Aldrich syndrome (WAS).

237 sorders, including Wiskott-Aldrich syndrome (WAS).

238 hers affected with Wiskott-Aldrich syndrome (WAS).

239 ents affected with Wiskott-Aldrich syndrome (WAS).

240 he pathogenesis of Wiskott-Aldrich syndrome (WAS).

241 esponsible for the Wiskott-Aldrich syndrome (WAS; OMIM accession number 301000) and its allelic varia

242 Here, we report that WAS patients have increased percentages of peripheral bl

243 Here, we have shown that WAS patients and mice deficient in WAS protein (WASP) fr

244 ficiency caused by mutations that affect the WAS protein (WASP) and characterized by cytoskeletal abn

245 The protein encoded by the WAS gene is a multifunctional signaling element expresse

246 In T cells, the WAS protein (WASp) regulates actin polymerization and tr

247 syndrome (WAS) is caused by mutations in the WAS gene and is characterized by immunodeficiency, eczem

248 he principal consequence of mutations in the WAS gene is to accelerate lymphocyte apoptosis, potentia

249 syndrome (WAS) is caused by mutations in the WAS gene that encodes for a protein (WASp) involved in c

250 In this study no alteration in the WAS gene was detected by Northern blot or Western blot a

251 h syndrome (WAS), caused by mutations in the WAS gene, is a complex and diverse disorder with X-linke

252 RP and thrombin was slightly enhanced in the WAS platelets relative to controls.

253 is a single base insertion (1305insG) in the WAS protein (WASP) gene, which results in frameshift and

254 me (WAS) is associated with mutations in the WAS protein (WASp), which plays a critical role in the i

255 ) caused by a 6-bp insertion (ACGAGG) in the WAS protein gene, which abrogates protein expression.

256 ultiple proline-rich proteins, including the WAS protein (WASp)/WASp-interacting protein (WIP) comple

257 e encodes a 502-amino acid protein named the WAS protein (WASP).

258 ophila washout (wash) as a new member of the WAS family with essential cytoplasmic roles in early dev

259 Genetic disruption of the WAS gene has been linked to hematopoietic malignancies a

260 Moreover, reinstatement of the WAS gene in these patients restored both B cell toleranc

261 Here, we demonstrate that mutation of the WAS gene results in B cells that are hyperresponsive to

262 tin polymerization caused by mutation of the WAS gene.

263 ed a murine model created by knockout of the WAS protein gene (WASP) to evaluate the potential of gen

264 We therefore screened the WAS gene in 14 young SCN males with wild-type ELA2 and i

265 AS) interacting protein (WIP) stabilizes the WAS protein (WASP), the product of the gene mutated in W

266 results provide proof of principle that the WAS-associated T-cell signaling defects can be improved

267 We recently identified a third WAS family member, called Wash, with Arp2/3-mediated act

268 ntrinsic mechanisms critically contribute to WAS-associated autoimmunity.

269 aired WASP-WIP interaction may contribute to WAS.

270 that manifest in XLT without progressing to WAS do not disrupt chromatin remodeling or transcription

271 hr45Met and Arg86Cys, which result in XLT-to-WAS disease progression, impair recruitment of hBRM- but

272 /-) mice and in T and B lymphocytes from two WAS patients with missense mutations (R86H and T45M) tha

273 Cells from this patient had undetectable WAS protein (WASP), but normal WAS sequence and messenge

274 We found that unstimulated WAS lymphocytes underwent spontaneous apoptosis at a gre

275 We used WAS protein (WASp)-deficient mice to analyze the in vivo

276 MEAN (SD) HIGH-CONTRAST VA WAS AS FOLLOWS: DS = +0.39 +/- 0.2 logMAR; CP = +0.18 +/

277 a novel gene with similarity to mouse Whdc1 (WAS protein homology region 2 domain containing 1) and h

278 OLGA8E (golgin subfamily a, 8E) and WHDC1L1 (WAS protein homology region containing 1-like 1) and hav

279 Here, we assessed whether WAS protein deficiency (WASp deficiency) affects the est

280 ted in patients with features of WAS in whom WAS sequence and mRNA levels are normal.

281 normal T cell function, and may explain why WAS patients with mixed chimerism after stem cell transp

282 any of the genes previously associated with WAS.

283 vo by using IFN-I reporter mice crossed with WAS KO mice.

284 impact on the treatment of individuals with WAS mutations.

285 Here we report an 8-year-old patient with WAS caused by a single nucleotide insertion in the WASP

286 found that IL-2 treatment of a patient with WAS enhanced the cytotoxicity of their NK cells and the

287 ll homeostasis is perturbed in patients with WAS and restoration of immune competence is one of the m

288 Patients with WAS exhibit both immunodeficiency and a marked susceptib

289 te a significant proportion of patients with WAS having recurrent viral infections, surprisingly litt

290 mmunodysregulation observed in patients with WAS, and also in those with limited myeloid reconstituti

291 nhibitor as well as cells from patients with WAS, we have defined a direct effect of IL-2 signaling u

292 r (TCR) Vbeta repertoire in 13 patients with WAS.

293 the immunodeficiency in older patients with WAS.

294 to immunologic improvement in patients with WAS.

295 ncy and genomic instability in patients with WAS.

296 By analyzing a large number of patients with WAS/XLT at the molecular level we identified 5 mutationa

297 reviously found in one of her relatives with WAS.

298 m severity and prognostic outcome in the XLT-WAS clinical spectrum and could be targeted therapeutica

299 Although the genetic basis for XLT/WAS has been clarified, the relationships between mutant

300 eficiency and genomic instability in the XLT/WAS clinical spectrum.

301 ht contribute to disease severity in the XLT/WAS clinical spectrum.