-
4
-
-
34548317417
-
Dominant-negativemutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
-
Minegishi Y, SaitoM, Tsuchiya S, et al. Dominant-negativemutations 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
-
5
-
-
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
-
6
-
-
71149115670
-
Large deletions and pointmutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
-
Engelhardt KR, McGhee S, Winkler S, et al. Large deletions and pointmutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol 2009;124:1289-1302.
-
(2009)
J Allergy Clin Immunol
, vol.124
, pp. 1289-1302
-
-
Engelhardt, K.R.1
McGhee, S.2
Winkler, S.3
-
7
-
-
70949098060
-
Combined immunodeficiency associated with DOCK8mutations
-
Zhang Q, Davis JC, Lamborn IT, et al. Combined immunodeficiency associated with DOCK8mutations. N Engl JMed 2009;361:2046-2055.
-
(2009)
N Engl JMed
, vol.361
, pp. 2046-2055
-
-
Zhang, Q.1
Davis, J.C.2
Lamborn, I.T.3
-
8
-
-
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
-
9
-
-
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
-
10
-
-
0014008065
-
Job's Syndrome Recurrent, "cold, " staphylococcal abscesses
-
Davis SD, Schaller J, Wedgwood RJ. Job's Syndrome. Recurrent, "cold, " staphylococcal abscesses. Lancet 1966;1:1013-1015.
-
(1966)
Lancet
, vol.1
, pp. 1013-1015
-
-
Davis, S.D.1
Schaller, J.2
Wedgwood, R.J.3
-
11
-
-
0015266954
-
Extreme hyperimmunoglobulinemia e and undue susceptibility to infection
-
Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics 1972;49:59-70.
-
(1972)
Pediatrics
, vol.49
, pp. 59-70
-
-
Buckley, R.H.1
Wray, B.B.2
Belmaker, E.Z.3
-
14
-
-
0015266954
-
Extreme hyperimmunoglobulinemia e and undue susceptibility to infection
-
Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics 1972;49:59-70.
-
(1972)
Pediatrics
, vol.49
, pp. 59-70
-
-
Buckley, R.H.1
Wray, B.B.2
Belmaker, E.Z.3
-
15
-
-
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
-
16
-
-
0018268737
-
Cranial synostosis in Job's syndrome
-
Smithwick EM, Finelt M, Pahwa S, et al. Cranial synostosis in Job's syndrome. Lancet 1978;1:826.
-
(1978)
Lancet
, vol.1
, pp. 826
-
-
Smithwick, E.M.1
Finelt, M.2
Pahwa, S.3
-
18
-
-
0033522220
-
Hyper-IgE syndrome with recurrent infections-an autosomal dominantmultisystem disorder
-
Grimbacher B, Holland SM, Gallin JI, et al. Hyper-IgE syndrome with recurrent infections-an autosomal dominantmultisystem disorder. N Engl JMed 1999;340:692-702.
-
(1999)
N Engl JMed
, vol.340
, pp. 692-702
-
-
Grimbacher, B.1
Holland, S.M.2
Gallin, J.I.3
-
19
-
-
79961172075
-
Coronary artery abnormalities in hyper-IgE syndrome
-
Freeman AF, Avila EM, Shaw PA, et al. Coronary artery abnormalities in hyper-IgE syndrome. J Clin Immunol 2011;31:338-345.
-
(2011)
J Clin Immunol
, vol.31
, pp. 338-345
-
-
Freeman, A.F.1
Avila, E.M.2
Shaw, P.A.3
-
20
-
-
34248206159
-
Brain abnormalities in patients with hyperimmunoglobulin e syndrome
-
Freeman AF, Collura-Burke CJ, Patronas NJ, et al. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics 2007;119:e1121-e1125.
-
(2007)
Pediatrics
, vol.119
, pp. e1121-e1125
-
-
Freeman, A.F.1
Collura-Burke, C.J.2
Patronas, N.J.3
-
21
-
-
11444250326
-
Non-Hodgkin's lymphoma in Job's syndrome: A case report and literature review
-
Leonard GD, Posadas E, Herrmann PC, et al. Non-Hodgkin's lymphoma in Job's syndrome: A case report and literature review. Leuk Lymphoma 2004;45:2521-2525.
-
(2004)
Leuk Lymphoma
, vol.45
, pp. 2521-2525
-
-
Leonard, G.D.1
Posadas, E.2
Herrmann, P.C.3
-
23
-
-
34548317417
-
Dominant-negativemutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
-
Minegishi Y, Saito M, Tsuchiya S, et al. et al. Dominant-negativemutations 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
-
24
-
-
46049106939
-
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome
-
Renner ED, Rylaarsdam S, Anover-Sombke S, et al. Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol 2008;122:181-187.
-
(2008)
J Allergy Clin Immunol
, vol.122
, pp. 181-187
-
-
Renner, E.D.1
Rylaarsdam, S.2
Anover-Sombke, S.3
-
25
-
-
84874074941
-
Identification of a novel STAT3mutation in a patient with hyper-IgE syndrome
-
Mogensen TH, JakobsenMA, Larsen CS. Identification of a novel STAT3mutation 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
-
26
-
-
76049116822
-
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
-
Woellner C, Gertz EM, Schaffer AA, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol 2010;125:424-432.
-
(2010)
J Allergy Clin Immunol
, vol.125
, pp. 424-432
-
-
Woellner, C.1
Gertz, E.M.2
Schaffer, A.A.3
-
27
-
-
77952311605
-
Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients
-
Tamassia N, Castellucci M, Rossato M, et al. Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients. FASEB J 2010;24:1365-1375.
-
(2010)
FASEB J
, vol.24
, pp. 1365-1375
-
-
Tamassia, N.1
Castellucci, M.2
Rossato, M.3
-
28
-
-
84859972127
-
JAK and STAT signaling molecules in immunoregulation and immunemediated disease
-
O'Shea JJ, Plenge R. JAK and STAT signaling molecules in immunoregulation and immunemediated disease. Immunity 2012;36:542-550.
-
(2012)
Immunity
, vol.36
, pp. 542-550
-
-
O'Shea, J.J.1
Plenge, R.2
-
29
-
-
0030935260
-
Targeted disruption of the mouse Stat3 gene leads to early embryonic lethality
-
Takeda K, Noguchi K, Shi W, et al. Targeted disruption of the mouse Stat3 gene leads to early embryonic lethality. Proc Natl Acad Sci USA 1997;94:3801-3804.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 3801-3804
-
-
Takeda, K.1
Noguchi, K.2
Shi, W.3
-
30
-
-
80052687211
-
STAT3 negatively regulates type i IFN-mediated antiviral response
-
Wang WB, Levy DE, Lee CK. STAT3 negatively regulates type I IFN-mediated antiviral response. J Immunol 2011;187:2578-2585.
-
(2011)
J Immunol
, vol.187
, pp. 2578-2585
-
-
Wang, W.B.1
Levy, D.E.2
Lee, C.K.3
-
31
-
-
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
-
32
-
-
84871321329
-
Inborn errors of human IL-17 immunity underlie chronicmucocutaneous candidiasis
-
Puel A, Cypowyj S, Marodi L, et al. Inborn errors of human IL-17 immunity underlie chronicmucocutaneous candidiasis. Curr Opin Allergy Clin Immunol 2012;12:616-622.
-
(2012)
Curr Opin Allergy Clin Immunol
, vol.12
, pp. 616-622
-
-
Puel, A.1
Cypowyj, S.2
Marodi, L.3
-
33
-
-
0033557728
-
Neutrophil recruitment by human IL-17 via C-X-C chemokine release in the airways
-
Laan M, Cui ZH, Hoshino H, et al. Neutrophil recruitment by human IL-17 via C-X-C chemokine release in the airways. J Immunol 1999;162:2347-2352.
-
(1999)
J Immunol
, vol.162
, pp. 2347-2352
-
-
Laan, M.1
Cui, Z.H.2
Hoshino, H.3
-
34
-
-
0016175385
-
Defect in neutrophil granulocyte chemotaxis in Job's syndrome of recurrent "cold" staphylococcal abscesses
-
Hill HR, Ochs HD, Quie PG, et al. Defect in neutrophil granulocyte chemotaxis in Job's syndrome of recurrent "cold" staphylococcal abscesses. Lancet 1974;2:617-619.
-
(1974)
Lancet
, vol.2
, pp. 617-619
-
-
Hill, H.R.1
Ochs, H.D.2
Quie, P.G.3
-
35
-
-
0018199717
-
Abnormalities in the regulation of human IgE synthesis
-
Buckley RH, Becker WG. Abnormalities in the regulation of human IgE synthesis. Immunol Rev 1978;41:288-314.
-
(1978)
Immunol Rev
, vol.41
, pp. 288-314
-
-
Buckley, R.H.1
Becker, W.G.2
-
36
-
-
0037057645
-
Endogenous antimicrobial peptides and skin infections in atopic dermatitis
-
Ong PY, Ohtake T, Brandt C, et al. Endogenous antimicrobial peptides and skin infections in atopic dermatitis. N Engl JMed 2002;347:1151-1160.
-
(2002)
N Engl JMed
, vol.347
, pp. 1151-1160
-
-
Ong, P.Y.1
Ohtake, T.2
Brandt, C.3
-
37
-
-
79957851940
-
Newmechanism of oral immunity tomucosal candidiasis in hyper-IgE syndrome
-
Conti HR, Baker O, Freeman AF, et al. Newmechanism of oral immunity tomucosal candidiasis in hyper-IgE syndrome. Mucosal Immunol 2011;4:448-455.
-
(2011)
Mucosal Immunol
, vol.4
, pp. 448-455
-
-
Conti, H.R.1
Baker, O.2
Freeman, A.F.3
-
38
-
-
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
-
39
-
-
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
-
40
-
-
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 ExpMed 2010;207:155-171.
-
(2010)
J ExpMed
, vol.207
, pp. 155-171
-
-
Avery, D.T.1
Deenick, E.K.2
Ma, C.S.3
-
41
-
-
0037159687
-
A critical role for IL-21 in regulatingimmunoglobulin production
-
Ozaki K, Spolski R, Feng CG, et al. A critical role for IL-21 in regulatingimmunoglobulin production. Science 2002;298:1630-1634.
-
(2002)
Science
, vol.298
, pp. 1630-1634
-
-
Ozaki, K.1
Spolski, R.2
Feng, C.G.3
-
42
-
-
52649135446
-
STAT3 is required for IL-21-induced secretion of IgE fromhuman naive B cells
-
AveryDT, Ma CS, Bryant VL, et al. STAT3 is required for IL-21-induced secretion of IgE fromhuman naive B cells. Blood 2008;112:1784-1793.
-
(2008)
Blood
, vol.112
, pp. 1784-1793
-
-
Avery, D.T.1
Ma, C.S.2
Bryant, V.L.3
-
43
-
-
84877614089
-
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
-
Kotlarz D, Zietara N, Uzel G, et al. Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J ExpMed 2013;210:433-443.
-
(2013)
J ExpMed
, vol.210
, pp. 433-443
-
-
Kotlarz, D.1
Zietara, N.2
Uzel, G.3
-
44
-
-
84862909005
-
Immature B cells preferentially switch to IgE with increased direct SMU to Sepsilon recombination
-
Wesemann DR, Magee JM, Boboila C, et al. Immature B cells preferentially switch to IgE with increased direct SMU to Sepsilon recombination. J ExpMed 2011;208:2733-2746.
-
(2011)
J ExpMed
, vol.208
, pp. 2733-2746
-
-
Wesemann, D.R.1
Magee, J.M.2
Boboila, C.3
-
45
-
-
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
-
46
-
-
33845239481
-
STAT3 governs distinct pathways in emergency granulopoiesis andmature neutrophils
-
Panopoulos AD, Zhang L, Snow JW, et al. STAT3 governs distinct pathways in emergency granulopoiesis andmature neutrophils. Blood 2006;108:3682-3690.
-
(2006)
Blood
, vol.108
, pp. 3682-3690
-
-
Panopoulos, A.D.1
Zhang, L.2
Snow, J.W.3
-
47
-
-
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 Hum Genet 2011;89:67-81.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 67-81
-
-
Nieminen, P.1
Morgan, N.V.2
Fenwick, A.L.3
-
48
-
-
44849139210
-
GP130-STAT3 regulates epithelial cell migration and is required for repair of the bronchiolar epithelium
-
Kida H, Mucenski ML, Thitoff AR, et al. GP130-STAT3 regulates epithelial cell migration and is required for repair of the bronchiolar epithelium. AmJ Pathol 2008;172:1542-1554.
-
(2008)
AmJ Pathol
, vol.172
, pp. 1542-1554
-
-
Kida, H.1
Mucenski, M.L.2
Thitoff, A.R.3
-
49
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-beta receptor
-
Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl JMed 2006;355:788-798.
-
(2006)
N Engl JMed
, vol.355
, pp. 788-798
-
-
Loeys, B.L.1
Schwarze, U.2
Holm, T.3
-
50
-
-
74949108144
-
Stat3-dependent acute Rantes production in vascular smooth muscle cells modulates inflammation following arterial injury in mice
-
Kovacic JC, Gupta R, Lee AC, et al. Stat3-dependent acute Rantes production in vascular smooth muscle cells modulates inflammation following arterial injury in mice. J Clin Invest 2010;120:303-314.
-
(2010)
J Clin Invest
, vol.120
, pp. 303-314
-
-
Kovacic, J.C.1
Gupta, R.2
Lee, A.C.3
-
51
-
-
13444273148
-
Osteoporosiswith increased osteoclastogenesis in hematopoietic cell-specific STAT3-deficient mice
-
Zhang Z, Welte T, Troiano N, et al. Osteoporosiswith increased osteoclastogenesis in hematopoietic cell-specific STAT3-deficient mice. Biochem Biophys Res Commun 2005;328:800-807.
-
(2005)
Biochem Biophys Res Commun
, vol.328
, pp. 800-807
-
-
Zhang, Z.1
Welte, T.2
Troiano, N.3
-
52
-
-
33745919498
-
Conditional ablation of Stat3 or Socs3 discloses a dual role for reactive astrocytes after spinal cord injury
-
Okada S, Nakamura M, Katoh H, et al. Conditional ablation of Stat3 or Socs3 discloses a dual role for reactive astrocytes after spinal cord injury. NatMed 2006;12:829-834.
-
(2006)
NatMed
, vol.12
, pp. 829-834
-
-
Okada, S.1
Nakamura, M.2
Katoh, H.3
-
53
-
-
84864917825
-
Small molecule inhibitors of signal transducer and activator of transcription 3 (Stat3) protein
-
Debnath B, Xu S, Neamati N. Small molecule inhibitors of signal transducer and activator of transcription 3 (Stat3) protein. JMed Chem 2012;55:6645-6668.
-
(2012)
JMed Chem
, vol.55
, pp. 6645-6668
-
-
Debnath, B.1
Xu, S.2
Neamati, N.3
-
55
-
-
33845897463
-
Human tyrosine kinase 2 deficiency reveals its requisite roles inmultiple 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 inmultiple 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
-
56
-
-
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 Pediatr 2012;160:1055-1057.
-
(2012)
J Pediatr
, vol.160
, pp. 1055-1057
-
-
Kilic, S.S.1
Hacimustafaoglu, M.2
Boisson-Dupuis, S.3
-
57
-
-
9144261081
-
Autosomal recessive hyperimmunoglobulin e syndrome: A distinct disease entity
-
Renner ED, Puck JM, Holland SM, et al. Autosomal recessive hyperimmunoglobulin E syndrome: A distinct disease entity. J Pediatr 2004;144:93-99.
-
(2004)
J Pediatr
, vol.144
, pp. 93-99
-
-
Renner, E.D.1
Puck, J.M.2
Holland, S.M.3
-
59
-
-
78650642735
-
Genetic, clinical, and laboratorymarkers for DOCK8 immunodeficiency syndrome
-
Zhang Q, Davis JC, Dove CG, Su HC. Genetic, clinical, and laboratorymarkers for DOCK8 immunodeficiency syndrome. DisMarkers 2010;29:131-139.
-
(2010)
DisMarkers
, vol.29
, pp. 131-139
-
-
Zhang, Q.1
Davis, J.C.2
Dove, C.G.3
Su, H.C.4
-
60
-
-
80955148980
-
Hyperimmunoglobulin e syndromes in pediatrics
-
Zhang Q, Su HC. Hyperimmunoglobulin E syndromes in pediatrics. Curr Opin Pediatr 2011;23:653-658.
-
(2011)
Curr Opin Pediatr
, vol.23
, pp. 653-658
-
-
Zhang, Q.1
Su, H.C.2
-
61
-
-
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. Nat Immunol 2012;13:612-620.
-
(2012)
Nat Immunol
, vol.13
, pp. 612-620
-
-
Jabara, H.H.1
McDonald, D.R.2
Janssen, E.3
-
62
-
-
67651225115
-
Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper-IgE syndrome
-
Al KS, Keles S, Garcia-Lloret M, et al. Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper-IgE syndrome. J Allergy Clin Immunol 2009;124:342-348.
-
(2009)
J Allergy Clin Immunol
, vol.124
, pp. 342-348
-
-
Al, K.S.1
Keles, S.2
Garcia-Lloret, M.3
-
63
-
-
0034613161
-
Regulation of STAT3 by direct binding to the Rac1 GTPase
-
Simon AR, Vikis HG, Stewart S, et al. Regulation of STAT3 by direct binding to the Rac1 GTPase. Science 2000;290:144-147.
-
(2000)
Science
, vol.290
, pp. 144-147
-
-
Simon, A.R.1
Vikis, H.G.2
Stewart, S.3
-
65
-
-
80054842183
-
Deficient T cell receptor excision circles (TRECs) in autosomal recessive hyper-IgE syndrome caused by DOCK8mutation: Implications for pathogenesis and potential detection by newborn screening
-
DasoukiM, Okonkwo KC, Ray A, et al. Deficient T cell receptor excision circles (TRECs) in autosomal recessive hyper-IgE syndrome caused by DOCK8mutation: implications for pathogenesis and potential detection by newborn screening. Clin Immunol 2011;141:128-132.
-
(2011)
Clin Immunol
, vol.141
, pp. 128-132
-
-
Dasouki, M.1
Okonkwo, K.C.2
Ray, A.3
-
66
-
-
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
-
68
-
-
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. Nat Immunol 2012;13:612-620.
-
(2012)
Nat Immunol
, vol.13
, pp. 612-620
-
-
Jabara, H.H.1
McDonald, D.R.2
Janssen, E.3
-
71
-
-
82255181388
-
DOCK8 is essential for T-cell survival and themaintenance of CD8+ T-cell memory
-
Lambe T, CrawfordG, Johnson AL, et al. DOCK8 is essential for T-cell survival and themaintenance of CD8+ T-cell memory. Eur J Immunol 2011;41:3423-3435.
-
(2011)
Eur J Immunol
, vol.41
, pp. 3423-3435
-
-
Lambe, T.1
Crawford, G.2
Johnson, A.L.3
-
72
-
-
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
-
73
-
-
33846211528
-
Human tyk2 kinase deficiency: Another primary immunodeficiency syndrome
-
Watford WT, O'Shea JJ. Human tyk2 kinase deficiency: Another primary immunodeficiency syndrome. Immunity 2006;25:695-697.
-
(2006)
Immunity
, vol.25
, pp. 695-697
-
-
Watford, W.T.1
O'Shea, J.J.2
-
74
-
-
0141482051
-
A naturalmutation in the Tyk2 pseudokinasedomain underlies altered susceptibility of B10. Q/J mice to infection and autoimmunity
-
ShawMH, Boyartchuk V, Wong S, et al. A naturalmutation in the Tyk2 pseudokinasedomain underlies altered susceptibility of B10. Q/J mice to infection and autoimmunity. Proc Natl Acad Sci USA 2003;100:11594-11599.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 11594-11599
-
-
Shaw, M.H.1
Boyartchuk, V.2
Wong, S.3
-
75
-
-
84893419976
-
Congenital disorders of glycosylation and intellectual disability
-
Wolfe LA, Krasnewich D. Congenital disorders of glycosylation and intellectual disability. Dev Disabil Res Rev 2013;17:211-225.
-
(2013)
Dev Disabil Res Rev
, vol.17
, pp. 211-225
-
-
Wolfe, L.A.1
Krasnewich, D.2
-
76
-
-
34547913040
-
Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development
-
Greig KT, Antonchuk J, Metcalf D, et al. Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development. Mol Cell Biol 2007;27:5849-5859.
-
(2007)
Mol Cell Biol
, vol.27
, pp. 5849-5859
-
-
Greig, K.T.1
Antonchuk, J.2
Metcalf, D.3
-
78
-
-
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 Pediatr 1996;155:390-392.
-
(1996)
Eur J Pediatr
, vol.155
, pp. 390-392
-
-
Antoniades, K.1
Hatzistilianou, M.2
Pitsavas, G.3
-
79
-
-
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 Pediatr 1999;158:723-726.
-
(1999)
Eur J Pediatr
, vol.158
, pp. 723-726
-
-
Boeck, A.1
Gfatter, R.2
Braun, F.3
Fritz, B.4
-
80
-
-
0035889370
-
Saethre-Chotzen syndromeand hyper IgE syndromein a patient with a novel 11 bp deletion of the TWIST gene
-
Boeck A, Kosan C, Ciznar P, Kunz J. Saethre-Chotzen syndromeand hyper IgE syndromein a patient with a novel 11 bp deletion of the TWIST gene. Am JMed Genet 2001;104:53-56.
-
(2001)
Am JMed Genet
, vol.104
, pp. 53-56
-
-
Boeck, A.1
Kosan, C.2
Ciznar, P.3
Kunz, J.4
-
81
-
-
0003955573
-
-
London: Churchill Livingstone, 7th ed
-
Mandell GL, Bennett JE, Dolin R. Mandell, Douglas, and Bennett's principles and practice of infectious diseases, 7th ed. London: Churchill Livingstone; 2010.
-
(2010)
Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases
-
-
Mandell, G.L.1
Bennett, J.E.2
Dolin, R.3
-
83
-
-
77955925927
-
Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome
-
Goussetis E, Peristeri I, Kitra V, et al. Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome. J Allergy Clin Immunol 2010;126:392-394.
-
(2010)
J Allergy Clin Immunol
, vol.126
, pp. 392-394
-
-
Goussetis, E.1
Peristeri, I.2
Kitra, V.3
-
84
-
-
79953734130
-
Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation
-
Gatz SA, Benninghoff U, Schutz C, et al. Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. BoneMarrow Transplant 2011;46:552-556.
-
(2011)
BoneMarrow Transplant
, vol.46
, pp. 552-556
-
-
Gatz, S.A.1
Benninghoff, U.2
Schutz, C.3
-
85
-
-
79961014871
-
Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency
-
Barlogis V, Galambrun C, Chambost H, et al. Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency. J Allergy Clin Immunol 2011;128:420-422.
-
(2011)
J Allergy Clin Immunol
, vol.128
, pp. 420-422
-
-
Barlogis, V.1
Galambrun, C.2
Chambost, H.3
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