ライフサイエンスコーパス: CVID

1 CVID patients have considerable autoimmune comorbidity a

2 CVID patients underwent tests of gut absorption, periphe

3 CVID patients with gastrointestinal symptoms differed fr

4 te the genetic basis for this phenotype, 150 CVID patients and 200 controls were genotyped for six bi

5 CVID patients with GLILD (CVID-GLILD), 1/21 CVID patients without GLILD (CVID-control), and no patie

6 dy performed in CVID to date, we compare 778 CVID cases with 10,999 controls across 123,127 single-nu

7 It was positive in 6/9 CVID patients with GLILD (CVID-GLILD), 1/21 CVID patient

8 n addition, Nfkb2 mouse models demonstrate a CVID-like phenotype with hypogammaglobulinemia and poor

9 function, and TACI-deficient mice exhibit a CVID-like disease.

10 on 9 skipping mutation (c.835+2T>G) and in a CVID-affected family from New Zealand with a heterozygou

11 CpG-activated CVID plasmacytoid dendritic cells did not produce IFN-al

12 f autoreactive B cells in healthy donors and CVID patients.

13 be considered in children with SLE, ES, and CVID.

14 kpoints, we analyzed healthy individuals and CVID patients carrying one or two TACI mutations.

15 A majority of CD21(-/lo) B cells from RA and CVID patients expressed germline autoreactive antibodies

16 ding JIA, SLE, CEL, T1D, UC, CD, PS, SPA and CVID, attributable to common genomic variations (SNP-h(2

17 testinal symptoms differed from asymptomatic CVID patients by having significantly longer duration of

18 In a Dutch-Australian CVID-affected family, we identified a NFKB1 heterozygous

19 s had GS and 440 had CVID, including 39 B(-) CVID, with a median age at diagnosis of 60, 35, and 34 y

20 GS differs notably from CVID and B(-) CVID: very late onset, no familial cases, and absence of

21 in 90.5% of GS, 54% of CVID, and 72% of B(-) CVID patients.

22 d in 76% of GS, 29% of CVID, and 26% of B(-) CVID patients.

23 nor lymphoma, unlike those with CVID or B(-) CVID.

24 immunodeficiency (CVID), and those with B(-) CVID (circulating B cells <1%) were performed.

25 milies in whom male members were affected by CVID were examined for a defect in the XLP gene.

26 Clinically, CVID is a truly variable antibody deficiency syndrome.

27 etry, was applied to patients with confirmed CVID in comparison with age-matched healthy control subj

28 play an increase of CD21(low) B-cell counts (CVID 21low), whereas others do not (CVID 21norm).

29 ents with common variable immune deficiency (CVID) an increased risk for autoimmunity.

30 iency and common variable immune deficiency (CVID) in humans.

31 Common variable immune deficiency (CVID) is a primary immune deficiency characterized by lo

32 Common variable immune deficiency (CVID) is an assorted group of primary diseases that clin

33 sified as common variable immune deficiency (CVID), although other genes, including some not yet iden

34 ents with common variable immune deficiency (CVID).

35 ines produced by LPMCs from Crohn's disease, CVID patients did not produce excess amounts of interleu

36 Common variable immunodeficiency disorder (CVID) is the most common symptomatic primary immunodefic

37 h common variable immunodeficiency disorder (CVID), which was recognizable by a support vector machin

38 common variable immunodeficiency disorders (CVIDs), predominating.

39 B cell-targeted therapy might disrupt CVID-associated lymphoid hyperplasia.

40 entified in a family with autosomal dominant CVID.

41 Thus, TACI mutations may favor CVID by altering B cell activation with coincident impai

42 ment was more profound in naive B cells from CVID 21low patients than CVID 21norm patients and most p

43 Similar to the mice, Ig S joints from CVID and IgA deficiency patients carrying disease-associ

44 GS differs notably from CVID and B(-) CVID: very late onset, no familial cases,

45 HC region, supporting that this is a genuine CVID locus.

46 proteins were also undetectable in a German CVID-affected family with a heterozygous in-frame exon 9

47 as positive in 6/9 CVID patients with GLILD (CVID-GLILD), 1/21 CVID patients without GLILD (CVID-cont

48 ID-GLILD), 1/21 CVID patients without GLILD (CVID-control), and no patients receiving intravenous gam

49 The association between "granulomatous" CVID and TNF +488A was independent of HLA class I and II

50 Twenty-one patients had GS and 440 had CVID, including 39 B(-) CVID, with a median age at diagn

51 etically, and they were classified as having CVID.

52 T cell dysfunction regularly found in human CVID.

53 duals with common variable immunodeficiency (CVID) and 1 of 16 individuals with IgA deficiency (IgAD)

54 s who have common variable immunodeficiency (CVID) and granulomatous/lymphocytic interstitial lung di

55 ients with common variable immunodeficiency (CVID) comprises a heterogeneous group of patients with d

56 ients with common variable immunodeficiency (CVID) disorders display impairment in production of immu

57 ients with common variable immunodeficiency (CVID) experience immune dysregulation manifesting as aut

58 duals with common variable immunodeficiency (CVID) express either the C104R or A181E variants of TACI

59 Although common variable immunodeficiency (CVID) has long been considered as a group of primary Ab

60 ients with common variable immunodeficiency (CVID) have debilitating inflammatory complications stron

61 Common variable immunodeficiency (CVID) is a disease that is characterized primarily by lo

62 Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by antib

63 Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by B-cel

64 Common variable immunodeficiency (CVID) is a heterogeneous syndrome characterized by impai

65 Common variable immunodeficiency (CVID) is a syndrome characterized by immunoglobulin defi

66 Common variable immunodeficiency (CVID) is an antibody deficiency treated with immunoglobu

67 Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distri

68 Common variable immunodeficiency (CVID) is an immune disorder that not only causes increas

69 Common variable immunodeficiency (CVID) is characterized by late-onset hypogammaglobulinem

70 Common variable immunodeficiency (CVID) is characterized clinically by inadequate quantity

71 Common variable immunodeficiency (CVID) is the commonest symptomatic primary antibody diso

72 Common variable immunodeficiency (CVID) is the primary immunodeficiency most commonly enco

73 Common variable immunodeficiency (CVID) patients can develop an idiopathic inflammatory bo

74 ubgroup of common variable immunodeficiency (CVID) patients have distinct clinical features, particul

75 ses and in common variable immunodeficiency (CVID) patients who are prone to autoimmunity.

76 cells from common variable immunodeficiency (CVID) patients who have one mutant copy of the gene enco

77 ients with common variable immunodeficiency (CVID) present with severely reduced switched memory B-ce

78 ients with common variable immunodeficiency (CVID) where the effect of the humoral immune system is r

79 ients with common variable immunodeficiency (CVID) who are heterozygous for transmembrane activator a

80 those with common variable immunodeficiency (CVID), and those with B(-) CVID (circulating B cells <1%

81 Common variable immunodeficiency (CVID), characterized by recurrent infections, is the mos

82 condary to common variable immunodeficiency (CVID), Evans syndrome (ES), or systemic lupus erythemato

83 ients with common variable immunodeficiency (CVID), including production of cytokines and proliferati

84 Common variable immunodeficiency (CVID), the most frequent symptomatic primary immune defi

85 ients with common variable immunodeficiency (CVID).

86 ients with common variable immunodeficiency (CVID).

87 tient with common variable immunodeficiency (CVID).

88 iated with common variable immunodeficiency (CVID).

89 jects with common variable immunodeficiency (CVID).

90 r focus on common variable immunodeficiency (CVID).

91 In conclusion, the CLEC16A associations in CVID represent the first robust evidence of non-HLA asso

92 of the function and number of iNKT cells in CVID.

93 t there are broad TLR9 activation defects in CVID which would prevent CpG-DNA-initiated innate immune

94 e-activated normal B cells, was deficient in CVID B cells, as was TLR9 mRNA.

95 ous-lymphocytic interstitial lung disease in CVID), and an increased risk of lymphoma.

96 and the development of autoimmune disease in CVID.

97 s and consequences of microbial dysbiosis in CVID.

98 of inflammation and immune dysregulation in CVID, and suggest research strategies to contribute to t

99 f NF-kappaB signaling defects, especially in CVID 21low patients, suggests a broad underlying signali

100 termined the prevalence of HHV8 infection in CVID patients with GLILD.

101 centers suggest tertiary lymphoneogenesis in CVID-associated lung disease.

102 One of the 2 most common TACI mutations in CVID, A181E, introduces a negative charge into the trans

103 ustion and functional impairment observed in CVID patients is associated with bacterial translocation

104 asia, different from the pattern observed in CVID patients.

105 RA to improve critical immune parameters in CVID-derived B cells stimulated through TLR9 and RP105 s

106 e, in the largest genetic study performed in CVID to date, we compare 778 CVID cases with 10,999 cont

107 other B cell and T cell findings reported in CVID remains unclear.

108 to restore the defective immune responses in CVID-derived B cells activated through the TLRs TLR9 and

109 ts suggest that TACI mutations can result in CVID and IgAD.

110 tion and nuclear translocation, resulting in CVID with adrenocorticotropic hormone deficiency, growth

111 associated with gastrointestinal symptoms in CVID is a unique combination of diverse histologic findi

112 of the role of genetic variations in TACI in CVID populations has improved our understanding of possi

113 n the development of immune dysregulation in CVIDs has become more apparent.

114 ID, suggesting that TACI mutations influence CVID pathogenesis via dominant interference or haploinsu

115 he diseases UC-CD (0.69+/-s.e. 0.07) and JIA-CVID (0.343+/-s.e. 0.13) are the most strongly correlate

116 alpha and antiviral chemotherapy in managing CVID-associated inflammatory disease.

117 B signaling was impaired in all mature naive CVID-derived B cells.

118 on cells from patients with noninflammatory CVID and healthy subjects.

119 counts (CVID 21low), whereas others do not (CVID 21norm).

120 tions were demonstrated in 76% of GS, 29% of CVID, and 26% of B(-) CVID patients.

121 ections were observed in 90.5% of GS, 54% of CVID, and 72% of B(-) CVID patients.

122 In approximately 90% of CVID-affected individuals, no genetic cause of the disea

123 We report a novel association of CVID with rare variants at the FUS/ITGAM (CD11b) locus o

124 een uncovered, and the genetic background of CVID remains elusive to date for the majority of patient

125 To investigate the molecular cause of CVID, we carried out exome sequence analysis of a family

126 However, rare monogenic causes of CVID might lack such a genetic fingerprint.

127 remains elusive, a common characteristic of CVID is deficient IgG Ab production in response to infec

128 D8 ratio inversion that is characteristic of CVID.

129 targeted therapies for this complication of CVID.

130 The diagnostic delay of CVID ranges between 4 and 5 years in many countries and

131 ation might contribute to the development of CVID disorders.

132 ly with multiple members with a diagnosis of CVID was screened by using whole-exome sequencing.

133 A patient given a diagnosis of CVID, who was born to a consanguineous family and thus w

134 does not recapitulate autoimmune features of CVID-associated C104R and A181E TNFRSF13B mutations, whi

135 IKAROS caused an autosomal dominant form of CVID that is associated with a striking decrease in B-ce

136 the innate immune system in pathogenesis of CVID has begun to emerge.

137 ole of the microbiome in the pathogenesis of CVID immune dysregulation, and describe the possible imm

138 ctor (TACI) mutations in the pathogenesis of CVID was further described and reported to be likely med

139 re for the first time in the pathogenesis of CVID.

140 aimed to better understand the pathology of CVID-associated lung disease.

141 mutations cosegregated with the phenotype of CVID or IgAD in family members of four index individuals

142 E TACI variants and have no outward signs of CVID, and it is not clear why TACI deficiency in this gr

143 ormation might predispose to the spectrum of CVID disorders.

144 toire diversity between various subgroups of CVID patients according to their B cell immunophenotypes

145 RA with TLR stimulation for the treatment of CVID.

146 Research into the cause of CVIDs has made use of the increased understanding of imm

147 NA did not up-regulate expression of CD86 on CVID B cells, even when costimulated by the BCR, or indu

148 One CVID-GLILD patient developed a B cell lymphoma during th

149 Male subjects with early-onset CVID were more prone to pneumonia and less prone to othe

150 rticularly high in subjects with early-onset CVID.

151 population of patients with pediatric-onset CVID to clinically correlate and assess their ability to

152 D27 as genetically dissimilar from polygenic CVID.

153 ack the genetic pattern present in polygenic CVID cases.

154 ed through the SVM algorithm from our recent CVID genome-wide association study.

155 presented with a clinical picture resembling CVID.

156 is likely a monogenic cause of the family's CVID phenotype.

157 , and poor Ab responses to vaccine in severe CVID patients.

158 d isotype switching in TLR9/RP105-stimulated CVID-derived B cells owing to reduced induction of activ

159 Symptomatic CVID patients showed diffuse histologic inflammatory cha

160 LPMCs from symptomatic CVID patients produced significantly higher T-helper (Th

161 naive B cells from CVID 21low patients than CVID 21norm patients and most pronounced in CD21(low) B

162 0 proteins were absent, we conclude that the CVID phenotype in these families is caused by NF-kappaB1

163 Two cohorts could be discerned within the CVID group: group 1 with an abnormal number of iNKT cell

164 C104R TACI mutation can potentially lead to CVID.

165 n immune regulatory pathways of relevance to CVID.

166 hypothesized that genetic susceptibility to CVID may overlap with autoimmune disorders.

167 ubsequent screening of NFKB2 in 33 unrelated CVID-affected individuals uncovered a second heterozygou

168 superfamily member TACI are associated with CVID and autoimmune manifestations, whereas two mutated

169 (SNPs) at the 16p11.2 locus associated with CVID at a genome-wide significant level in the discovery

170 ther subjects with mutations associated with CVID-like phenotypes were screened through the SVM algor

171 cell number or function was associated with CVID.

172 for 90 patients to examine associations with CVID patient subgroups.

173 sequence analysis of a family diagnosed with CVID and identified a heterozygous frameshift mutation,

174 One of the four individuals with CVID had a single nucleotide insertion in the other TNFR

175 sidered when more than one male patient with CVID is encountered in the same family, and SH2D1A must

176 ured in peripheral blood of 55 patients with CVID (31 with and 24 without inflammatory/autoimmune com

177 mutation was more frequent in patients with CVID (n = 53, P < .013).

178 s in a discovery cohort of 164 patients with CVID and 19,542 healthy control subjects genotyped on th

179 n an independent cohort of 135 patients with CVID and 2,066 healthy control subjects, followed by met

180 ry enumerated iNKT cells in 36 patients with CVID and 50 healthy controls.

181 roduction was observed between patients with CVID and controls.

182 zation to evaluate a subset of patients with CVID and low B-cell numbers.

183 Patients with CVID are being managed differently throughout Europe, af

184 paB) signaling in B cells from patients with CVID as a central pathway in B-cell differentiation.

185 vitro activation revealed that patients with CVID behaved heterogeneously in terms of responsiveness

186 etectable in the lungs of most patients with CVID by CT scanning, not all patients develop lung compl

187 1 iNKT cells/10(5) T cells) in patients with CVID compared with healthy controls (100 iNKT cells/10(5

188 d follicular helper T cells of patients with CVID compared with those of healthy control subjects.

189 e and IgM(+) memory B cells of patients with CVID compared with those of healthy donors, whereas the

190 n primary B cells of pediatric patients with CVID disorders and healthy control subjects.

191 Instead, B cells from patients with CVID disorders exhibited reduced BCR dissociation from C

192 In many pediatric patients with CVID disorders, B cells exhibit significant deficits in

193 Data on 2212 patients with CVID from 28 medical centers contributing to the Europea

194 rogeneity of memBc function in patients with CVID homogenously grouped by means of fluorescence-activ

195 ls in blood and lymph nodes of patients with CVID using flow cytometry, analyzed their function, and

196 Expression in patients with CVID was associated with anaphylaxis on IVIg infusion (P

197 Five controls and four patients with CVID were studied.

198 utions per year, compared with patients with CVID with a rate of 0.415 nucleotide substitutions per y

199 The B cells of patients with CVID with CD21(low) B-cell expansion resemble anergic B

200 ut not in the naive B cells of patients with CVID with CD21(low) expansion.

201 ed them with counterparts from patients with CVID with heterozygous C104R or A181E TNFRSF13B missense

202 mmunologic features typical of patients with CVID with heterozygous TNFRSF13B missense mutations.

203 Patients with CVID with immune dysregulation had a skewed memory CD4 T

204 lymph node-derived T cells of patients with CVID with immune dysregulation will offer new therapeuti

205 were expanded in the blood of patients with CVID with inflammatory conditions (mean, 3.7% of PBMCs).

206 ulation is a characteristic of patients with CVID with inflammatory disease; ILCs and the interferon

207 s and pathologic findings of 6 patients with CVID with nodular/infiltrative lung disease who had biop

208 of an interferon signature in patients with CVID with secondary complications and a skewed follicula

209 In some patients with CVID, a defective btk or CD40-L gene has been found, but

210 with inflammatory pathology in patients with CVID, explain some of the well-known T-cell abnormalitie

211 of immune dysfunction in some patients with CVID, have enabled advances in the clinical classificati

212 vestigate whether B cells from patients with CVID, like anergic B cells, have defects in extracellula

213 nal and lung biopsy tissues of patients with CVID, numerous IFN-gamma(+)RORgammat(+)CD3(-) cells were

214 ns were found in the plasma of patients with CVID, suggesting that CD4 T cell dysfunction might be ca

215 liver, and bone marrow of four patients with CVID-GLILD.

216 o be intrinsic to B cells from patients with CVID.

217 onally impaired in most of the patients with CVID.

218 n contribute to anaphylaxis in patients with CVID.

219 et is expanded in CMV-infected patients with CVID.

220 e effector cell populations in patients with CVID.

221 icians to further characterize patients with CVID.

222 e memory formation observed in patients with CVID.

223 mphoproliferative disorders in patients with CVID.

224 A must be analyzed in all male patients with CVID.

225 substitutions per year for the patients with CVID.

226 ot previously been explored in patients with CVID.

227 phoproliferation (P = .002) in patients with CVID.

228 ons in both TACI alleles do not present with CVID, suggesting that TACI mutations influence CVID path

229 ects with mutations, including subjects with CVID and relatives.

230 Thus, B cells of relatives of subjects with CVID who have mutations in TACI but normal immune globul

231 healthy relatives but not for subjects with CVID.

232 hyperplasia nor lymphoma, unlike those with CVID or B(-) CVID.

233 n B cells of healthy patients and those with CVID.

234 ociations of genes and genetic variants with CVID.