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 KO mice showed reduced viral clearance and enhanced

5 WAS patients display increased expression of type-I IFN

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

37 to the clinical immunodeficiency suffered by WAS patients.

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

39 standing the effects of mutations that cause WAS.

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

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

42 ay mechanistically contribute to the complex WAS immunophenotype.

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

44 y and secondary transplantation of corrected WAS HSPCs into immunodeficient mice showed persistence o

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

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

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

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

49 Wiskott-Aldrich syndrome, defined by either WAS gene mutation or absent Wiskott-Aldrich syndrome pro

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

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

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

53 Lentiviral gene therapy (GT) for WAS has shown promising results in terms of immune recon

54 In summary, HCT outcomes for WAS have improved since 2005, compared with prior report

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

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

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

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

69 or HNO2) to enhance methane production from WAS.

70 an hematopoietic cytoskeletal regulator gene WAS.

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

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

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

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

75 with a lentiviral vector encoding for human WAS cDNA.

76 ly explains the autoimmune features in human WAS.

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

78 al in the hematopoietic lineages affected in WAS.

79 WASp reconstitution in vitro and in WAS patients following clinical gene therapy restores au

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

81 ayers in the pathogenesis of autoimmunity in WAS.

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

83 underlying the platelet formation defect in WAS patients.

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

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

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

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

88 icism may have different clinical effects in WAS.

89 anism underlying the recurrent infections in WAS patients.

90 agocytic defects and recurrent infections in WAS patients.

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

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

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

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

95 tribute to the clinical features observed in WAS patients.

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

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

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

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

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

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

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

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

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

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

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

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

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

109 , mitochondrial respiration is suppressed in WAS patient MDMs and unable to achieve normal maximal ac

110 may represent a novel therapeutic target in WAS.

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

112 nsights into the loss of immune tolerance in WAS.

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

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

115 iple functional defects in platelets lacking WAS protein and demonstrates that GT normalizes the plat

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

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

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

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

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

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

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

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

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

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

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

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

128 l signaling defect that is characteristic of WAS.

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

130 ng strategy allows the precise correction of WAS mutations in up to 60% of human hematopoietic stem a

131 e hematologic and functional deficiencies of WAS knockout mice.

132 order (PID) resulting from the deficiency of WAS-protein (WASp) expressed predominantly in the hemato

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

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

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

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

137 elp us to understand the immunodeficiency of WAS.

138 15 years of age regardless of the levels of WAS protein (WASP) expression.

139 ymphocytes expressed nearly normal levels of WAS protein.

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

141 Manifestations of WAS include thrombocytopenia, eczema, and immunodeficien

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

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

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

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

146 cell types contribute to the pathologies of WAS.

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

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

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

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

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

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

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

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

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

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

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

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

159 s performed in patients with food allergy or WAS.

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

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

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

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

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

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

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

167 sludge digestion of waste activated sludge (WAS) is widely used as a stabilization option in small-

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

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

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

171 h gene therapy for Wiskott-Aldrich syndrome (WAS) and beta-hemoglobinopathies.

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

173 nts with classical Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) because it caus

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

189 Wiskott-Aldrich syndrome (WAS) is an X-linked disease caused by mutations in the W

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

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

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

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

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

195 Wiskott-Aldrich syndrome (WAS) is an X-linked primary immune deficiency disorder r

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

197 Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency with severe

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

218 cancers develop in Wiskott-Aldrich syndrome (WAS), an X-linked primary immunodeficiency disorder (PID

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

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

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

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

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

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

225 160 patients with Wiskott-Aldrich syndrome (WAS), we identified a subset of infants who were signifi

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

245 X-linked disease caused by mutations in the WAS gene, leading to thrombocytopenia, eczema, recurrent

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

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

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

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

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

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

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

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

254 tin polymerization caused by mutation of the WAS gene.

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

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

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

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

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

260 ntrinsic mechanisms critically contribute to WAS-associated autoimmunity.

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

262 e hyperactivated phenotype proportionally to WAS protein expression and length of follow-up.

263 Delivery of the editing reagents to WAS HSPCs led to full rescue of WASp expression and corr

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

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

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

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

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

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

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

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

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

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

274 any of the genes previously associated with WAS.

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

276 impact on the treatment of individuals with WAS mutations.

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

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

279 type and function in untreated patients with WAS and assessed the effect of GT treatment on platelet

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

281 Patients with WAS exhibit both immunodeficiency and a marked susceptib

282 that platelets from untreated patients with WAS have reduced size, abnormal ultrastructure, and a hy

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

284 Lymphocytes from patients with WAS manifest increased DNA damage and lymphopenia from c

285 We report the outcomes of 129 patients with WAS who underwent HCT at 29 Primary Immune Deficiency Tr

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

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

288 ity-linked immunodeficiency in patients with WAS.

289 orm of immune dysregulation in patients with WAS.

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

291 the immunodeficiency in older patients with WAS.

292 ncy and genomic instability in patients with WAS.

293 to immunologic improvement in patients with WAS.

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

295 We analyzed a cohort of 20 patients with WAS/XLT, 15 of them receiving GT.

296 reviously found in one of her relatives with WAS.

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

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

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

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