-
1
-
-
78650648441
-
Clinical manifestations of hyper IgE syndromes
-
Freeman AF, Holland SM. Clinical manifestations of hyper IgE syndromes. Dis Markers 2010; 29: 123-130.
-
(2010)
Dis Markers
, vol.29
, pp. 123-130
-
-
Freeman, A.F.1
Holland, S.M.2
-
2
-
-
81055149877
-
The hyperimmunoglo-bulin e syndrome: Clinical manifestation diversity in primary immune deficiency
-
Szczawinska-Poplonyk A, Kycler Z, Pietrucha B, et al. The hyperimmunoglo-bulin E syndrome: clinical manifestation diversity in primary immune deficiency. Orphanet J Rare Dis 2011; 6:76.
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 76
-
-
Szczawinska-Poplonyk, A.1
Kycler, Z.2
Pietrucha, B.3
-
4
-
-
0033522220
-
Hyper-IgE syndrome with recurrent infections: An autosomal dominant multisystem disorder
-
Grimbacher B, Holland SM, Gallin JI, et al. Hyper-IgE syndrome with recurrent infections: an autosomal dominant multisystem disorder. N Engl J Med 1999; 340:692-702.
-
(1999)
N Engl J Med
, vol.340
, pp. 692-702
-
-
Grimbacher, B.1
Holland, S.M.2
Gallin, J.I.3
-
6
-
-
84896881838
-
STAT3 is a central regulator of lymphocyte differentiation and function
-
Kane A, Deenick EK, Ma CS, et al. STAT3 is a central regulator of lymphocyte differentiation and function. Curr Opin Immunol 2014; 28:49-57.
-
(2014)
Curr Opin Immunol
, vol.28
, pp. 49-57
-
-
Kane, A.1
Deenick, E.K.2
Ma, C.S.3
-
7
-
-
84863722197
-
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: Molecular, cellular, and clinical features from a French national survey
-
Chandesris MO, Melki I, Natividad A, et al. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine 2012; 91:e1-e19.
-
(2012)
Medicine
, vol.91
, pp. e1-e19
-
-
Chandesris, M.O.1
Melki, I.2
Natividad, A.3
-
8
-
-
84907597444
-
Hyper IgE syndrome: Anaphylaxis in a patient carrying the N567D STAT3 mutation
-
Merli P, Novara F, Montagna D, et al. Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation. Pediatr Allergy Immunol 2014; 25:503-505.
-
(2014)
Pediatr Allergy Immunol
, vol.25
, pp. 503-505
-
-
Merli, P.1
Novara, F.2
Montagna, D.3
-
9
-
-
84901420442
-
Novel STAT3 mutation causing hyper-IgE syndrome: Studies of the clinical course and immunopathology
-
Sundin M, Tesi B, Sund BohmeM, et al. Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology. J Clin Immunol 2014; 34:469-477.
-
(2014)
J Clin Immunol
, vol.34
, pp. 469-477
-
-
Sundin, M.1
Tesi, B.2
Sund Bohme, M.3
-
10
-
-
84882945022
-
Clinical features, STAT3 gene mutations and Th17 cell analysis in nine children with hyper-IgE syndrome in mainland China
-
Zhang LY, Tian W, Shu L, et al. Clinical features, STAT3 gene mutations and Th17 cell analysis in nine children with hyper-IgE syndrome in mainland China. Scand J Immunol 2013; 78:258-265.
-
(2013)
Scand J Immunol
, vol.78
, pp. 258-265
-
-
Zhang, L.Y.1
Tian, W.2
Shu, L.3
-
11
-
-
84874074941
-
Identification of a novel STAT3 mutation in a patient with hyper-IgE syndrome
-
Mogensen TH, Jakobsen MA, Larsen CS. Identification of a novel STAT3 mutation in a patient with hyper-IgE syndrome. Scand J Infect Dis 2013; 45:235-238.
-
(2013)
Scand J Infect Dis
, vol.45
, pp. 235-238
-
-
Mogensen, T.H.1
Jakobsen, M.A.2
Larsen, C.S.3
-
12
-
-
34548317417
-
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
-
Minegishi Y, Saito M, Tsuchiya S, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007; 448:1058-1062.
-
(2007)
Nature
, vol.448
, pp. 1058-1062
-
-
Minegishi, Y.1
Saito, M.2
Tsuchiya, S.3
-
13
-
-
79953028378
-
Paucity of genotype-phenotype correlations in STAT3 mutation positive hyper IgE syndrome (HIES)
-
Heimall J, Davis J, Shaw PA, et al. Paucity of genotype-phenotype correlations in STAT3 mutation positive hyper IgE syndrome (HIES). Clin Immunol 2011; 139:75-84.
-
(2011)
Clin Immunol
, vol.139
, pp. 75-84
-
-
Heimall, J.1
Davis, J.2
Shaw, P.A.3
-
14
-
-
84898877252
-
Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin e syndrome: Genetic and clinical studies of six patients
-
Wolach O, Kuijpers T, Ben-Ari J, et al. Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients. J Clin Immunol 2014; 34:163-170.
-
(2014)
J Clin Immunol
, vol.34
, pp. 163-170
-
-
Wolach, O.1
Kuijpers, T.2
Ben-Ari, J.3
-
15
-
-
84878539074
-
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism
-
Hsu AP, Sowerwine KJ, Lawrence MG, et al. Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism. J Allergy Clin Immunol 2013; 131:1586-1593.
-
(2013)
J Allergy Clin Immunol
, vol.131
, pp. 1586-1593
-
-
Hsu, A.P.1
Sowerwine, K.J.2
Lawrence, M.G.3
-
16
-
-
84870301013
-
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES)
-
Spielberger BD, Woellner C, Dueckers G, et al. Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES). J Allergy Clin Immunol 2012; 130:1426-1428.
-
(2012)
J Allergy Clin Immunol
, vol.130
, pp. 1426-1428
-
-
Spielberger, B.D.1
Woellner, C.2
Dueckers, G.3
-
17
-
-
76149139419
-
B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans
-
Avery DT, Deenick EK, Ma CS, et al. B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. J Exp Med 2010; 207:155-171.
-
(2010)
J Exp Med
, vol.207
, pp. 155-171
-
-
Avery, D.T.1
Deenick, E.K.2
Ma, C.S.3
-
18
-
-
84887431252
-
STAT-3 activation by differential cytokines is critical for human in vivo-generated plasma cell survival and Ig secretion
-
Rodriguez-Bayona B, Ramos-Amaya A, Lopez-Blanco R, et al. STAT-3 activation by differential cytokines is critical for human in vivo-generated plasma cell survival and Ig secretion. J Immunol 2013; 191:4996-5004.
-
(2013)
J Immunol
, vol.191
, pp. 4996-5004
-
-
Rodriguez-Bayona, B.1
Ramos-Amaya, A.2
Lopez-Blanco, R.3
-
19
-
-
84893494824
-
IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts
-
Berglund LJ, Avery DT, Ma CS, et al. IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts. Blood 2013; 122:3940-3950.
-
(2013)
Blood
, vol.122
, pp. 3940-3950
-
-
Berglund, L.J.1
Avery, D.T.2
Ma, C.S.3
-
20
-
-
79951685337
-
Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells
-
Saito M, Nagasawa M, Takada H, et al. Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells. J Exp Med 2011; 208:235-249.
-
(2011)
J Exp Med
, vol.208
, pp. 235-249
-
-
Saito, M.1
Nagasawa, M.2
Takada, H.3
-
21
-
-
80053158135
-
SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function
-
Giacomelli M, Tamassia N, Moratto D, et al. SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function. Eur J Immunol 2011; 41:3075-3084.
-
(2011)
Eur J Immunol
, vol.41
, pp. 3075-3084
-
-
Giacomelli, M.1
Tamassia, N.2
Moratto, D.3
-
22
-
-
35348960378
-
STAT3 mutations in the hyper-IgE syndrome
-
Holland SM, DeLeo FR, Elloumi HZ, et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med 2007; 357:1608-1619.
-
(2007)
N Engl J Med
, vol.357
, pp. 1608-1619
-
-
Holland, S.M.1
Deleo, F.R.2
Elloumi, H.Z.3
-
23
-
-
41449110468
-
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
-
Milner JD, Brenchley JM, Laurence A, et al. Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature 2008; 452:773-776.
-
(2008)
Nature
, vol.452
, pp. 773-776
-
-
Milner, J.D.1
Brenchley, J.M.2
Laurence, A.3
-
24
-
-
84859711557
-
Functional STAT3 deficiency compromises the generation of human T follicular helper cells
-
Ma CS, Avery DT, Chan A, et al. Functional STAT3 deficiency compromises the generation of human T follicular helper cells. Blood 2012; 119:3997-4008.
-
(2012)
Blood
, vol.119
, pp. 3997-4008
-
-
Ma, C.S.1
Avery, D.T.2
Chan, A.3
-
25
-
-
84888101388
-
Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells
-
Deenick EK, Avery DT, Chan A, et al. Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells. J Exp Med 2013; 210:2739-2753.
-
(2013)
J Exp Med
, vol.210
, pp. 2739-2753
-
-
Deenick, E.K.1
Avery, D.T.2
Chan, A.3
-
26
-
-
84866355862
-
+ T cells to drive STAT3-dependent plasma cell differentiation in B cells
-
+ T cells to drive STAT3-dependent plasma cell differentiation in B cells. Immunol Cell Biol 2012; 90:802-811.
-
(2012)
Immunol Cell Biol
, vol.90
, pp. 802-811
-
-
Diehl, S.A.1
Schmidlin, H.2
Nagasawa, M.3
-
27
-
-
84881121485
-
Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function
-
e409
-
Ives ML, Ma CS, Palendira U, et al. Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function. J Allergy Clin Immunol 2013; 132:400-411; e409.
-
(2013)
J Allergy Clin Immunol
, vol.132
, pp. 400-411
-
-
Ives, M.L.1
Ma, C.S.2
Palendira, U.3
-
28
-
-
67449149963
-
Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome
-
Minegishi Y, Saito M, Nagasawa M, et al. Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. J Exp Med 2009; 206:1291-1301.
-
(2009)
J Exp Med
, vol.206
, pp. 1291-1301
-
-
Minegishi, Y.1
Saito, M.2
Nagasawa, M.3
-
29
-
-
84900428801
-
A mouse model of HIES reveals pro-and anti-inflammatory functions of STAT3
-
Steward-Tharp SM, Laurence A, Kanno Y, et al. A mouse model of HIES reveals pro-and anti-inflammatory functions of STAT3. Blood 2014; 123:2978-2987.
-
(2014)
Blood
, vol.123
, pp. 2978-2987
-
-
Steward-Tharp, S.M.1
Laurence, A.2
Kanno, Y.3
-
30
-
-
80051547705
-
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth
-
Nieminen P, Morgan NV, Fenwick AL, et al. Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. Am J Human Genet 2011; 89:67-81.
-
(2011)
Am J Human Genet
, vol.89
, pp. 67-81
-
-
Nieminen, P.1
Morgan, N.V.2
Fenwick, A.L.3
-
31
-
-
84879506514
-
The capacity of Th2 lymphocytes to deliver B-cell help requires expression of the transcription factor STAT3
-
Mari N, Hercor M, Denanglaire S, et al. The capacity of Th2 lymphocytes to deliver B-cell help requires expression of the transcription factor STAT3. Eur J Immunol 2013; 43:1489-1498.
-
(2013)
Eur J Immunol
, vol.43
, pp. 1489-1498
-
-
Mari, N.1
Hercor, M.2
Denanglaire, S.3
-
32
-
-
84875704003
-
Blood CD4+CD45RO+CXCR5+ T cells are decreased but partially functional in signal transducer and activator of transcription 3 deficiency
-
Mazerolles F, Picard C, Kracker S, et al. Blood CD4+CD45RO+CXCR5+ T cells are decreased but partially functional in signal transducer and activator of transcription 3 deficiency. J Allergy Clin Immunol 2013; 131:1146-1156.
-
(2013)
J Allergy Clin Immunol
, vol.131
, pp. 1146-1156
-
-
Mazerolles, F.1
Picard, C.2
Kracker, S.3
-
33
-
-
84896372779
-
Transcription factor STAT3 and type i interferons are corepressive insulators for differentiation of follicular helper and T helper 1 cells
-
Ray JP, Marshall HD, Laidlaw BJ, et al. Transcription factor STAT3 and type I interferons are corepressive insulators for differentiation of follicular helper and T helper 1 cells. Immunity 2014; 40:367-377.
-
(2014)
Immunity
, vol.40
, pp. 367-377
-
-
Ray, J.P.1
Marshall, H.D.2
Laidlaw, B.J.3
-
34
-
-
82055163110
-
A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory
-
Siegel AM, Heimall J, Freeman AF, et al. A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory. Immunity 2011; 35:806-818.
-
(2011)
Immunity
, vol.35
, pp. 806-818
-
-
Siegel, A.M.1
Heimall, J.2
Freeman, A.F.3
-
35
-
-
84916879754
-
Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease
-
Crosby K, Swender D, Chernin L, et al. Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease. Allergy Rhinol 2012; 3:e94-e97.
-
(2012)
Allergy Rhinol
, vol.3
, pp. e94-e97
-
-
Crosby, K.1
Swender, D.2
Chernin, L.3
-
36
-
-
84878055216
-
An unusual lesion of the tongue in a 4-year-old with Job syndrome
-
Koslovsky DA, Kostakis VA, Glied AN, et al. An unusual lesion of the tongue in a 4-year-old with Job syndrome. J Oral Maxillofac Surg 2013; 71:1042-1049.
-
(2013)
J Oral Maxillofac Surg
, vol.71
, pp. 1042-1049
-
-
Koslovsky, D.A.1
Kostakis, V.A.2
Glied, A.N.3
-
37
-
-
84921607103
-
Hyperimmunoglobulin e syndrome presenting as eosinophilic pustular folliculitis: A case report
-
Lo CS, Yang CY, Ko JH, et al. Hyperimmunoglobulin E syndrome presenting as eosinophilic pustular folliculitis: a case report. Int J Dermatol 2014. doi:10.1111/ijd.12005.
-
(2014)
Int J Dermatol
-
-
Lo, C.S.1
Yang, C.Y.2
Ko, J.H.3
-
38
-
-
84861482445
-
Lessons learned from phagocytic function studies in a large cohort of patients with recurrent infections
-
Wolach B, Gavrieli R, Roos D, Berger-Achituv S. Lessons learned from phagocytic function studies in a large cohort of patients with recurrent infections. J Clin Immunol 2012; 32:454-466.
-
(2012)
J Clin Immunol
, vol.32
, pp. 454-466
-
-
Wolach, B.1
Gavrieli, R.2
Roos, D.3
Berger-Achituv, S.4
-
39
-
-
84877628014
-
Innate Stat3-mediated induction of the antimicrobial protein Reg3gamma is required for host defense against MRSA pneumonia
-
Choi SM, McAleer JP, Zheng M, et al. Innate Stat3-mediated induction of the antimicrobial protein Reg3gamma is required for host defense against MRSA pneumonia. J Exp Med 2013; 210:551-561.
-
(2013)
J Exp Med
, vol.210
, pp. 551-561
-
-
Choi, S.M.1
McAleer, J.P.2
Zheng, M.3
-
42
-
-
84892164942
-
Vertebral aspergillosis in a patient with autosomal-dominant hyper-IgE syndrome
-
Ma H, Kuang L, Lv G, et al. Vertebral aspergillosis in a patient with autosomal-dominant hyper-IgE syndrome. Clin Vaccine Immunol 2014; 21:107-109.
-
(2014)
Clin Vaccine Immunol
, vol.21
, pp. 107-109
-
-
Ma, H.1
Kuang, L.2
Lv, G.3
-
43
-
-
84873295192
-
Renal abscess in hyper-IgE syndrome
-
Roxo P, Menezes UP, Tucci S Jr, et al. Renal abscess in hyper-IgE syndrome. Urology 2013; 81:414-416.
-
(2013)
Urology
, vol.81
, pp. 414-416
-
-
Roxo, P.1
Menezes, U.P.2
Tucci, S.3
-
45
-
-
84875225304
-
A unique case of peroneus brevis/longus myositis in a patient with a STAT3 mutation
-
Sterbank J, Marino J, Jhaveri D, et al. A unique case of peroneus brevis/longus myositis in a patient with a STAT3 mutation. Ann Allergy Asthma Immunol 2013; 110:204-205.
-
(2013)
Ann Allergy Asthma Immunol
, vol.110
, pp. 204-205
-
-
Sterbank, J.1
Marino, J.2
Jhaveri, D.3
-
46
-
-
84901988362
-
Atopic dermatitis, STAT3-and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern
-
Boos AC, Hagl B, Schlesinger A, et al. Atopic dermatitis, STAT3-and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern. Allergy 2014; 69:943-953.
-
(2014)
Allergy
, vol.69
, pp. 943-953
-
-
Boos, A.C.1
Hagl, B.2
Schlesinger, A.3
-
47
-
-
85027940079
-
Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation
-
Siegel AM, Stone KD, Cruse G, et al. Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation. J Allergy Clin Immunol 2013; 132:1388-1396.
-
(2013)
J Allergy Clin Immunol
, vol.132
, pp. 1388-1396
-
-
Siegel, A.M.1
Stone, K.D.2
Cruse, G.3
-
48
-
-
84890535921
-
The altered landscape of the human skin microbiome in patients with primary immunodeficiencies
-
Oh J, Freeman AF, Park M, et al. The altered landscape of the human skin microbiome in patients with primary immunodeficiencies. Genome Res 2013; 23:2103-2114.
-
(2013)
Genome Res
, vol.23
, pp. 2103-2114
-
-
Oh, J.1
Freeman, A.F.2
Park, M.3
-
49
-
-
84897458643
-
Skin microbiome imbalance in patients with STAT1/STAT3 defects impairs innate host defense responses
-
Smeekens SP, Huttenhower C, Riza A, et al. Skin microbiome imbalance in patients with STAT1/STAT3 defects impairs innate host defense responses. J Innate Immun 2014; 6:253-262.
-
(2014)
J Innate Immun
, vol.6
, pp. 253-262
-
-
Smeekens, S.P.1
Huttenhower, C.2
Riza, A.3
-
50
-
-
84877782916
-
Serum free light chains as predictors of lymphomagenesis in patients with autosomal dominant hyper-immunoglobulin e syndrome (Job's syndrome)
-
Manasanch EE, Freeman AF, Pittaluga S, et al. Serum free light chains as predictors of lymphomagenesis in patients with autosomal dominant hyper-immunoglobulin E syndrome (Job's syndrome). Leuk Lymphoma 2013; 54:1316-1317.
-
(2013)
Leuk Lymphoma
, vol.54
, pp. 1316-1317
-
-
Manasanch, E.E.1
Freeman, A.F.2
Pittaluga, S.3
-
51
-
-
84890889458
-
B lymphocytes from patients with a hypomorphic mutation in STAT3 resist Epstein-Barr virus-driven cell proliferation
-
Koganti S, de la Paz A, Freeman AF, Bhaduri-McIntosh S. B lymphocytes from patients with a hypomorphic mutation in STAT3 resist Epstein-Barr virus-driven cell proliferation. J Virol 2014; 88:516-524.
-
(2014)
J Virol
, vol.88
, pp. 516-524
-
-
Koganti, S.1
De La Paz, A.2
Freeman, A.F.3
Bhaduri-Mcintosh, S.4
-
52
-
-
84879228920
-
Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome
-
Freeman AF, Renner ED, Henderson C, et al. Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome. J Clin Immunol 2013; 33:896-902.
-
(2013)
J Clin Immunol
, vol.33
, pp. 896-902
-
-
Freeman, A.F.1
Renner, E.D.2
Henderson, C.3
-
53
-
-
80055079540
-
Plasma metalloproteinase levels are dysregulated in signal transducer and activator of transcription 3 mutated hyper-IgE syndrome
-
Sekhsaria V, Dodd LE, Hsu AP, et al. Plasma metalloproteinase levels are dysregulated in signal transducer and activator of transcription 3 mutated hyper-IgE syndrome. J Allergy Clin Immunol 2011; 128:1124-1127.
-
(2011)
J Allergy Clin Immunol
, vol.128
, pp. 1124-1127
-
-
Sekhsaria, V.1
Dodd, L.E.2
Hsu, A.P.3
-
54
-
-
84879199460
-
Reduced bone density in patients with autosomal dominant hyper-IgE syndrome
-
Scheuerman O, Hoffer V, Cohen AH, et al. Reduced bone density in patients with autosomal dominant hyper-IgE syndrome. J Clin Immunol 2013; 33:903-908.
-
(2013)
J Clin Immunol
, vol.33
, pp. 903-908
-
-
Scheuerman, O.1
Hoffer, V.2
Cohen, A.H.3
-
55
-
-
84898868512
-
Bone density and fractures in autosomal dominant hyper IgE syndrome
-
Sowerwine KJ, Shaw PA, Gu W, et al. Bone density and fractures in autosomal dominant hyper IgE syndrome. JClin Immunol 2014; 34:260-264.
-
(2014)
JClin Immunol
, vol.34
, pp. 260-264
-
-
Sowerwine, K.J.1
Shaw, P.A.2
Gu, W.3
-
57
-
-
84864717795
-
Dental manifestations of a pediatric patient with hyperimmunoglobulin e syndrome: A case report
-
Kamasaki Y, Hidaka K, Nishiguchi M, Fujiwara T. Dental manifestations of a pediatric patient with hyperimmunoglobulin e syndrome: a case report. J Dent Child 2012; 79:100-104.
-
(2012)
J Dent Child
, vol.79
, pp. 100-104
-
-
Kamasaki, Y.1
Hidaka, K.2
Nishiguchi, M.3
Fujiwara, T.4
-
58
-
-
84860874728
-
Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency
-
Chandesris MO, Azarine A, Ong KT, et al. Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency. Circ Cardiovasc Genet 2012; 5:25-34.
-
(2012)
Circ Cardiovasc Genet
, vol.5
, pp. 25-34
-
-
Chandesris, M.O.1
Azarine, A.2
Ong, K.T.3
-
59
-
-
84885174334
-
Neurobehavioral profiles in individuals with hyperimmunoglobulin e Syndrome (HIES) and brain white matter hyperintensities
-
Martin S, Wolters P, Billings N, et al. Neurobehavioral profiles in individuals with hyperimmunoglobulin E Syndrome (HIES) and brain white matter hyperintensities. J Clin Immunol 2013; 33:1175-1184.
-
(2013)
J Clin Immunol
, vol.33
, pp. 1175-1184
-
-
Martin, S.1
Wolters, P.2
Billings, N.3
-
60
-
-
9144261081
-
Autosomal recessive hyper-immunoglobulin e syndrome: A distinct disease entity
-
Renner ED, Puck JM, Holland SM, et al. Autosomal recessive hyper-immunoglobulin E syndrome: a distinct disease entity. J Pediatrics 2004; 144:93-99.
-
(2004)
J Pediatrics
, vol.144
, pp. 93-99
-
-
Renner, E.D.1
Puck, J.M.2
Holland, S.M.3
-
61
-
-
71149115670
-
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autoso-mal-recessive form of hyper-IgE syndrome
-
e1284
-
Engelhardt KR, McGhee S, Winkler S, et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autoso-mal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol 2009; 124:1289-1302; e1284.
-
(2009)
J Allergy Clin Immunol
, vol.124
, pp. 1289-1302
-
-
Engelhardt, K.R.1
McGhee, S.2
Winkler, S.3
-
62
-
-
70949098060
-
Combined immunodeficiency associated with DOCK8 mutations
-
Zhang Q, Davis JC, Lamborn IT, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 2009; 361:2046-2055.
-
(2009)
N Engl J Med
, vol.361
, pp. 2046-2055
-
-
Zhang, Q.1
Davis, J.C.2
Lamborn, I.T.3
-
63
-
-
84892474895
-
Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis
-
Janssen E, Tsitsikov E, Al-Herz W, et al. Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis. Clin Immunol 2014; 150:220-224.
-
(2014)
Clin Immunol
, vol.150
, pp. 220-224
-
-
Janssen, E.1
Tsitsikov, E.2
Al-Herz, W.3
-
64
-
-
84901777686
-
Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype
-
Jing H, Zhang Q, Zhang Y, et al. Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype. J Allergy Clin Immunol 2014; 133:1667-1675.
-
(2014)
J Allergy Clin Immunol
, vol.133
, pp. 1667-1675
-
-
Jing, H.1
Zhang, Q.2
Zhang, Y.3
-
65
-
-
84876441426
-
Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: Single center experience of twenty-five patients
-
Alsum Z, Hawwari A, Alsmadi O, et al. Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients. J Clin Immunol 2013; 33:55-67.
-
(2013)
J Clin Immunol
, vol.33
, pp. 55-67
-
-
Alsum, Z.1
Hawwari, A.2
Alsmadi, O.3
-
66
-
-
84894259911
-
Acute eosinophilic pneumonia occurring in a dedicator of cytokinesis 8 (DOCK8) deficient patient
-
Tsuge I, Ito K, Ohye T, et al. Acute eosinophilic pneumonia occurring in a dedicator of cytokinesis 8 (DOCK8) deficient patient. Pediatric Pulmonol 2014; 49:E52-E55.
-
(2014)
Pediatric Pulmonol
, vol.49
, pp. E52-E55
-
-
Tsuge, I.1
Ito, K.2
Ohye, T.3
-
67
-
-
84903754172
-
+ activated T cells is associated with memory B cell reduction in DOCK8-deficient patients
-
+ activated T cells is associated with memory B cell reduction in DOCK8-deficient patients. Clin Immunol 2014; 152:164-170.
-
(2014)
Clin Immunol
, vol.152
, pp. 164-170
-
-
Caracciolo, S.1
Moratto, D.2
Giacomelli, M.3
-
68
-
-
84880961783
-
Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis
-
Van deKerk DJ, van Leeuwen EM, Jansen MH, et al. Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis. Clin Immunol 2013; 149: 25-31.
-
(2013)
Clin Immunol
, vol.149
, pp. 25-31
-
-
Van Dekerk, D.J.1
Van Leeuwen, E.M.2
Jansen, M.H.3
-
69
-
-
84861236002
-
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation
-
Jabara HH, McDonald DR, Janssen E, et al. DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nature Immunol 2012; 13:612-620.
-
(2012)
Nature Immunol
, vol.13
, pp. 612-620
-
-
Jabara, H.H.1
McDonald, D.R.2
Janssen, E.3
-
70
-
-
84861235270
-
Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait
-
Al-Herz W, Ragupathy R, Massaad MJ, et al. Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait. Clin Immunol 2012; 143:266-272.
-
(2012)
Clin Immunol
, vol.143
, pp. 266-272
-
-
Al-Herz, W.1
Ragupathy, R.2
Massaad, M.J.3
-
71
-
-
84875454223
-
Dedicator of cytokinesis 8 interacts with talin and Wiskott-Aldrich syndrome protein to regulate NK cell cytotoxicity
-
Ham H, Guerrier S, Kim J, et al. Dedicator of cytokinesis 8 interacts with talin and Wiskott-Aldrich syndrome protein to regulate NK cell cytotoxicity. J Immunol 2013; 190:3661-3669.
-
(2013)
J Immunol
, vol.190
, pp. 3661-3669
-
-
Ham, H.1
Guerrier, S.2
Kim, J.3
-
72
-
-
84875226021
-
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency
-
Mizesko MC, Banerjee PP, Monaco-Shawver L, et al. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 2013; 131:840-848.
-
(2013)
J Allergy Clin Immunol
, vol.131
, pp. 840-848
-
-
Mizesko, M.C.1
Banerjee, P.P.2
Monaco-Shawver, L.3
-
73
-
-
84899692269
-
Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency
-
Al-Zahrani D, Raddadi A, Massaad M, et al. Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency. Clin Immunol 2014; 153:104-108.
-
(2014)
Clin Immunol
, vol.153
, pp. 104-108
-
-
Al-Zahrani, D.1
Raddadi, A.2
Massaad, M.3
-
74
-
-
84901807538
-
Plasmacytoid dendritic cell depletion in DOCK8 deficiency: Rescue of severe herpetic infections with IFN-alpha 2b therapy
-
e1753
-
Keles S, Jabara HH, Reisli I, et al. Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-alpha 2b therapy. J Allergy Clin Immunol 2014; 133:1753-1755; e1753.
-
(2014)
J Allergy Clin Immunol
, vol.133
, pp. 1753-1755
-
-
Keles, S.1
Jabara, H.H.2
Reisli, I.3
-
75
-
-
84887595223
-
DOCK8 is critical for the survival and function of NKT cells
-
Crawford G, Enders A, Gileadi U, et al. DOCK8 is critical for the survival and function of NKT cells. Blood 2013; 122:2052-2061.
-
(2013)
Blood
, vol.122
, pp. 2052-2061
-
-
Crawford, G.1
Enders, A.2
Gileadi, U.3
-
76
-
-
84861078339
-
DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses
-
Harada Y, Tanaka Y, Terasawa M, et al. DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses. Blood 2012; 119:4451-4461.
-
(2012)
Blood
, vol.119
, pp. 4451-4461
-
-
Harada, Y.1
Tanaka, Y.2
Terasawa, M.3
-
77
-
-
84897396302
-
Vaccine strain varicella-zoster virus-induced central nervous system vasculopathy as the presenting feature of DOCK8 deficiency
-
Sabry A, Hauk PJ, Jing H, et al. Vaccine strain varicella-zoster virus-induced central nervous system vasculopathy as the presenting feature of DOCK8 deficiency. J Allergy Clin Immunol 2014; 133:1225-1227.
-
(2014)
J Allergy Clin Immunol
, vol.133
, pp. 1225-1227
-
-
Sabry, A.1
Hauk, P.J.2
Jing, H.3
-
78
-
-
84904262236
-
Primary immunodeficiency may be misdiagnosed as cow's milk allergy: Seven cases referred to a tertiary pediatric hospital
-
Melo KM, Dantas E, De Moraes-Pinto MI, et al. Primary immunodeficiency may be misdiagnosed as cow's milk allergy: seven cases referred to a tertiary pediatric hospital. ISRN Pediatrics 2013; 2013:470286.
-
(2013)
ISRN Pediatrics
, vol.2013
, pp. 470286
-
-
Melo, K.M.1
Dantas, E.2
De Moraes-Pinto, M.I.3
-
79
-
-
84856022081
-
Cutaneous manifestations of DOCK8 deficiency syndrome
-
Chu EY, Freeman AF, Jing H, et al. Cutaneous manifestations of DOCK8 deficiency syndrome. Arch Dermatol 2012; 148:79-84.
-
(2012)
Arch Dermatol
, vol.148
, pp. 79-84
-
-
Chu, E.Y.1
Freeman, A.F.2
Jing, H.3
-
80
-
-
84903721433
-
Grave aortic aneurysmal dilatation in DOCK8 deficiency
-
Al Mutairi M, Al-Mousa H, AlSaud B, et al. Grave aortic aneurysmal dilatation in DOCK8 deficiency. Modern Rheumatol 2014; 24:690-693.
-
(2014)
Modern Rheumatol
, vol.24
, pp. 690-693
-
-
Al Mutairi, M.1
Al-Mousa, H.2
Alsaud, B.3
-
81
-
-
33845897463
-
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
-
Minegishi Y, Saito M, Morio T, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006; 25:745-755.
-
(2006)
Immunity
, vol.25
, pp. 745-755
-
-
Minegishi, Y.1
Saito, M.2
Morio, T.3
-
82
-
-
84860015114
-
A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome
-
Kilic SS, Hacimustafaoglu M, Boisson-Dupuis S, et al. A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. J Pediatrics 2012; 160:1055-1057.
-
(2012)
J Pediatrics
, vol.160
, pp. 1055-1057
-
-
Kilic, S.S.1
Hacimustafaoglu, M.2
Boisson-Dupuis, S.3
-
83
-
-
84899629014
-
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels
-
Sassi A, Lazaroski S, Wu G, et al. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol 2014; 133:1410-1419.
-
(2014)
J Allergy Clin Immunol
, vol.133
, pp. 1410-1419
-
-
Sassi, A.1
Lazaroski, S.2
Wu, G.3
-
84
-
-
84899618667
-
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
-
Zhang Y, Yu X, Ichikawa M, et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol 2014; 133:1400-1409.
-
(2014)
J Allergy Clin Immunol
, vol.133
, pp. 1400-1409
-
-
Zhang, Y.1
Yu, X.2
Ichikawa, M.3
-
85
-
-
84890071803
-
Severe eczema and hyper-IgE in Loeys-Dietz syndrome: Contribution to new findings of immune dysregulation in connective tissue disorders
-
Felgentreff K, Siepe M, Kotthoff S, et al. Severe eczema and hyper-IgE in Loeys-Dietz syndrome: contribution to new findings of immune dysregulation in connective tissue disorders. Clin Immunol 2014; 150:43-50.
-
(2014)
Clin Immunol
, vol.150
, pp. 43-50
-
-
Felgentreff, K.1
Siepe, M.2
Kotthoff, S.3
-
86
-
-
0029981975
-
Co-existence of Dubowitz and hyper-IgE syndromes: A case report
-
Antoniades K, Hatzistilianou M, Pitsavas G, et al. Co-existence of Dubowitz and hyper-IgE syndromes: a case report. Eur J Pediatrics 1996; 155:390-392.
-
(1996)
Eur J Pediatrics
, vol.155
, pp. 390-392
-
-
Antoniades, K.1
Hatzistilianou, M.2
Pitsavas, G.3
-
87
-
-
0032813598
-
Pentasomy X and hyper IgE syndrome: Co-existence of two distinct genetic disorders
-
Boeck A, Gfatter R, Braun F, Fritz B. Pentasomy X and hyper IgE syndrome: co-existence of two distinct genetic disorders. Eur J Pediatrics 1999; 158:723-726.
-
(1999)
Eur J Pediatrics
, vol.158
, pp. 723-726
-
-
Boeck, A.1
Gfatter, R.2
Braun, F.3
Fritz, B.4
-
88
-
-
0035889370
-
Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11bp deletion of the TWIST gene
-
Boeck A, Kosan C, Ciznar P, Kunz J. Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11bp deletion of the TWIST gene. Am J Med Genet 2001; 104:53-56.
-
(2001)
Am J Med Genet
, vol.104
, pp. 53-56
-
-
Boeck, A.1
Kosan, C.2
Ciznar, P.3
Kunz, J.4
-
89
-
-
55549117115
-
Reduced memory B cells in patients with hyper IgE syndrome
-
Speckmann C, Enders A, Woellner C, et al. Reduced memory B cells in patients with hyper IgE syndrome. Clin Immunol 2008; 129:448-454.
-
(2008)
Clin Immunol
, vol.129
, pp. 448-454
-
-
Speckmann, C.1
Enders, A.2
Woellner, C.3
-
90
-
-
84856448923
-
Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation
-
Meyer-Bahlburg A, Renner ED, Rylaarsdam S, et al. Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation. J Allergy Clin Immunol 2012; 129:559-562.
-
(2012)
J Allergy Clin Immunol
, vol.129
, pp. 559-562
-
-
Meyer-Bahlburg, A.1
Renner, E.D.2
Rylaarsdam, S.3
-
91
-
-
84896887374
-
A novel case of Hyper IgE syndrome combined with natural killer cell deficiency
-
Zhang X, Liu Y, Liu Y, Dai H. A novel case of Hyper IgE syndrome combined with natural killer cell deficiency. Chinese Med J 2014; 127:982-983.
-
(2014)
Chinese Med J
, vol.127
, pp. 982-983
-
-
Zhang, X.1
Liu, Y.2
Liu, Y.3
Dai, H.4
-
93
-
-
84890535921
-
The altered landscape of the human skin microbiome in patients with primary immunodeficiencies
-
Oh J, Freeman AF, Program NCS, et al. The altered landscape of the human skin microbiome in patients with primary immunodeficiencies. Genome Res 2013; 23:2103-2114.
-
(2013)
Genome Res
, vol.23
, pp. 2103-2114
-
-
Oh, J.1
Freeman, A.F.2
Ncs, P.3
-
94
-
-
84876156746
-
Safety of major abdominal surgical procedures in patients with hyperimmunoglobulinemia e (Job's syndrome): A changing paradigm?
-
Langan RC, Sherry RM, Avital I, et al. Safety of major abdominal surgical procedures in patients with hyperimmunoglobulinemia E (Job's syndrome): a changing paradigm? J Gastrointest Surg 2013; 17:1009-1014.
-
(2013)
J Gastrointest Surg
, vol.17
, pp. 1009-1014
-
-
Langan, R.C.1
Sherry, R.M.2
Avital, I.3
-
95
-
-
84881134830
-
Inhaled alpha1-antitrypsin administered to treat pneumatocele in autosomal dominant hyperimmunoglobulin e syndrome
-
Karakoc-Aydiner E, Baris S, Keles S, et al. Inhaled alpha1-antitrypsin administered to treat pneumatocele in autosomal dominant hyperimmunoglobulin E syndrome. J Investig Allergol Clin Immunol 2013; 23:359-361.
-
(2013)
J Investig Allergol Clin Immunol
, vol.23
, pp. 359-361
-
-
Karakoc-Aydiner, E.1
Baris, S.2
Keles, S.3
-
96
-
-
84897563653
-
Haploidentical stem cell transplantation in DOCK8 deficiency-successful control of preexisting severe viremia with a TCRass/CD19-depleted graft and antiviral treatment
-
Ghosh S, Schuster FR, Adams O, et al. Haploidentical stem cell transplantation in DOCK8 deficiency-successful control of preexisting severe viremia with a TCRass/CD19-depleted graft and antiviral treatment. Clin Immunol 2014; 152:111-114.
-
(2014)
Clin Immunol
, vol.152
, pp. 111-114
-
-
Ghosh, S.1
Schuster, F.R.2
Adams, O.3
-
97
-
-
84868260706
-
Treosulfan-based conditioning in DOCK8 deficiency: Complete lympho-hematopoietic reconstitution with minimal toxicity
-
Ghosh S, Schuster FR, Fuchs I, et al. Treosulfan-based conditioning in DOCK8 deficiency: complete lympho-hematopoietic reconstitution with minimal toxicity. Clin Immunol 2012; 145:259-261.
-
(2012)
Clin Immunol
, vol.145
, pp. 259-261
-
-
Ghosh, S.1
Schuster, F.R.2
Fuchs, I.3
-
98
-
-
84861194430
-
Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome
-
Metin A, Tavil B, Azik F, et al. Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome. Pediatric Transplant 2012; 16:398-399.
-
(2012)
Pediatric Transplant
, vol.16
, pp. 398-399
-
-
Metin, A.1
Tavil, B.2
Azik, F.3
-
99
-
-
84873729679
-
Gross generalized molluscum contagiosum in a patient with autosomal recessive hyper-IgE syndrome, which resolved spontaneously after haematopoietic stem-cell transplantation
-
Siah TW, Gennery A, Leech S, Taylor A. Gross generalized molluscum contagiosum in a patient with autosomal recessive hyper-IgE syndrome, which resolved spontaneously after haematopoietic stem-cell transplantation. Clin Exp Dermatol 2013; 38:196-197.
-
(2013)
Clin Exp Dermatol
, vol.38
, pp. 196-197
-
-
Siah, T.W.1
Gennery, A.2
Leech, S.3
Taylor, A.4
|