-
1
-
-
85031108441
-
Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency
-
PID: 28916186
-
Abolhassani H et al (2018) Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol 141(4):1450–1458
-
(2018)
J Allergy Clin Immunol
, vol.141
, Issue.4
, pp. 1450-1458
-
-
Abolhassani, H.1
-
2
-
-
76149139419
-
B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans
-
PID: 20048285
-
Avery DT et al (2010) B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. J Exp Med 207(1):155–171
-
(2010)
J Exp Med
, vol.207
, Issue.1
, pp. 155-171
-
-
Avery, D.T.1
-
3
-
-
84925543370
-
DOCK8 deficiency: clinical and immunological phenotype and treatment options—a review of 136 patients
-
PID: 25627830
-
Aydin SE et al (2015) DOCK8 deficiency: clinical and immunological phenotype and treatment options—a review of 136 patients. J Clin Immunol 35(2):189–198
-
(2015)
J Clin Immunol
, vol.35
, Issue.2
, pp. 189-198
-
-
Aydin, S.E.1
-
4
-
-
0014557974
-
Job’s syndrome—a variant of chronic granulomatous disease. Report of a case
-
PID: 5815897
-
Bannatyne RM, Skowron PN, Weber JL (1969) Job’s syndrome—a variant of chronic granulomatous disease. Report of a case. J Pediatr 75(2):236–242
-
(1969)
J Pediatr
, vol.75
, Issue.2
, pp. 236-242
-
-
Bannatyne, R.M.1
Skowron, P.N.2
Weber, J.L.3
-
5
-
-
85021904849
-
A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients
-
PID: 28704707
-
Ben-Khemis L et al (2017) A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients. Mol Immunol 90:57–63
-
(2017)
Mol Immunol
, vol.90
, pp. 57-63
-
-
Ben-Khemis, L.1
-
6
-
-
0019176407
-
IgE antibodies to Staphylococcus aureus and Candida albicans in patients with the syndrome of hyperimmunoglobulin E and recurrent infections
-
PID: 7000900
-
Berger M et al (1980) IgE antibodies to Staphylococcus aureus and Candida albicans in patients with the syndrome of hyperimmunoglobulin E and recurrent infections. J Immunol 125(6):2437–2443
-
(1980)
J Immunol
, vol.125
, Issue.6
, pp. 2437-2443
-
-
Berger, M.1
-
7
-
-
84953636114
-
Neonatal-onset T(–)B(–)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3
-
PID: 26409661
-
Bernth-Jensen JM, Holm M, Christiansen M (2016) Neonatal-onset T(–)B(–)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3. J Allergy Clin Immunol 137(1):321–324
-
(2016)
J Allergy Clin Immunol
, vol.137
, Issue.1
, pp. 321-324
-
-
Bernth-Jensen, J.M.1
Holm, M.2
Christiansen, M.3
-
8
-
-
85052886349
-
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
-
PID: 29907691
-
Beziat V et al (2018) A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Sci Immunol 3(24):eaat4956
-
(2018)
Sci Immunol
, vol.3
, Issue.24
, pp. eaat4956
-
-
Beziat, V.1
-
9
-
-
0036174691
-
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
-
PID: 11841556
-
Bitoun E et al (2002) Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 118(2):352–361
-
(2002)
J Invest Dermatol
, vol.118
, Issue.2
, pp. 352-361
-
-
Bitoun, E.1
-
10
-
-
84885865938
-
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis
-
PID: 24120361
-
Boisson B et al (2013) An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity 39(4):676–686
-
(2013)
Immunity
, vol.39
, Issue.4
, pp. 676-686
-
-
Boisson, B.1
-
11
-
-
0018199717
-
Abnormalities in the regulation of human IgE synthesis
-
PID: 360511
-
Buckley RH, Becker WG (1978) Abnormalities in the regulation of human IgE synthesis. Immunol Rev 41:288–314
-
(1978)
Immunol Rev
, vol.41
, pp. 288-314
-
-
Buckley, R.H.1
Becker, W.G.2
-
12
-
-
0015266954
-
Extreme hyperimmunoglobulinemia E and undue susceptibility to infection
-
PID: 5059313
-
Buckley RH, Wray BB, Belmaker EZ (1972) Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics 49(1):59–70
-
(1972)
Pediatrics
, vol.49
, Issue.1
, pp. 59-70
-
-
Buckley, R.H.1
Wray, B.B.2
Belmaker, E.Z.3
-
13
-
-
84863722197
-
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey
-
PID: 22751495
-
Chandesris MO et al (2012) Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine 91(4):e1–e19
-
(2012)
Medicine
, vol.91
, Issue.4
, pp. e1-e19
-
-
Chandesris, M.O.1
-
14
-
-
0034120666
-
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
-
PID: 10835624
-
Chavanas S et al (2000) Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 25(2):141–142
-
(2000)
Nat Genet
, vol.25
, Issue.2
, pp. 141-142
-
-
Chavanas, S.1
-
15
-
-
53349099219
-
Inhibition of dendritic cell differentiation and accumulation of myeloid-derived suppressor cells in cancer is regulated by S100A9 protein
-
PID: 18809714
-
Cheng P et al (2008) Inhibition of dendritic cell differentiation and accumulation of myeloid-derived suppressor cells in cancer is regulated by S100A9 protein. J Exp Med 205(10):2235–2249
-
(2008)
J Exp Med
, vol.205
, Issue.10
, pp. 2235-2249
-
-
Cheng, P.1
-
16
-
-
33751174311
-
STAT3 positively regulates an early step in B-cell development
-
PID: 16825489
-
Chou WC, Levy DE, Lee CK (2006) STAT3 positively regulates an early step in B-cell development. Blood 108(9):3005–3011
-
(2006)
Blood
, vol.108
, Issue.9
, pp. 3005-3011
-
-
Chou, W.C.1
Levy, D.E.2
Lee, C.K.3
-
17
-
-
0017123752
-
T lymphocyte dysfunction, hyperimmunoglobulinemia E, recurrent bacterial infections, and defective neutrophil chemotaxis in a Negro child
-
PID: 1083903
-
Church JA et al (1976) T lymphocyte dysfunction, hyperimmunoglobulinemia E, recurrent bacterial infections, and defective neutrophil chemotaxis in a Negro child. J Pediatr 88(6):982–985
-
(1976)
J Pediatr
, vol.88
, Issue.6
, pp. 982-985
-
-
Church, J.A.1
-
18
-
-
0015607727
-
Defective neutrophil chemotaxis and cellular immunity in a child with recurrent infections
-
PID: 4571567
-
Clark RA et al (1973) Defective neutrophil chemotaxis and cellular immunity in a child with recurrent infections. Ann Intern Med 78(4):515–519
-
(1973)
Ann Intern Med
, vol.78
, Issue.4
, pp. 515-519
-
-
Clark, R.A.1
-
19
-
-
47749138958
-
Environmental determinants of total IgE among school children living in the rural Tropics: importance of geohelminth infections and effect of anthelmintic treatment
-
PID: 18588694
-
Cooper PJ et al (2008) Environmental determinants of total IgE among school children living in the rural Tropics: importance of geohelminth infections and effect of anthelmintic treatment. BMC Immunol 9:33
-
(2008)
BMC Immunol
, vol.9
, pp. 33
-
-
Cooper, P.J.1
-
20
-
-
84887595223
-
DOCK8 is critical for the survival and function of NKT cells
-
PID: 23929855
-
Crawford G et al (2013) DOCK8 is critical for the survival and function of NKT cells. Blood 122(12):2052–2061
-
(2013)
Blood
, vol.122
, Issue.12
, pp. 2052-2061
-
-
Crawford, G.1
-
21
-
-
84865793094
-
Immunity to infection in IL-17-deficient mice and humans
-
PID: 22949323
-
Cypowyj S et al (2012) Immunity to infection in IL-17-deficient mice and humans. Eur J Immunol 42(9):2246–2254
-
(2012)
Eur J Immunol
, vol.42
, Issue.9
, pp. 2246-2254
-
-
Cypowyj, S.1
-
22
-
-
10744227772
-
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
-
PID: 14740318
-
Dagoneau N et al (2004) Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet 74(2):298–305
-
(2004)
Am J Hum Genet
, vol.74
, Issue.2
, pp. 298-305
-
-
Dagoneau, N.1
-
23
-
-
0017176447
-
Infection, dermatitis, increased IgE, and impaired neutrophil chemotaxis. A possible relationship
-
PID: 786175
-
Dahl MV, Greene WH Jr, Quie PG (1976) Infection, dermatitis, increased IgE, and impaired neutrophil chemotaxis. A possible relationship. Arch Dermatol 112(10):1387–1390
-
(1976)
Arch Dermatol
, vol.112
, Issue.10
, pp. 1387-1390
-
-
Dahl, M.V.1
Greene, W.H.2
Quie, P.G.3
-
24
-
-
84931322042
-
Relationship between serum total IgE and disease severity in patients with allergic asthma in Spain
-
PID: 25997305
-
Davila I et al (2015) Relationship between serum total IgE and disease severity in patients with allergic asthma in Spain. J Investig Allergol Clin Immunol 25(2):120–127
-
(2015)
J Investig Allergol Clin Immunol
, vol.25
, Issue.2
, pp. 120-127
-
-
Davila, I.1
-
25
-
-
0014008065
-
Job’s syndrome recurrent “cold” Staphylococcal abscesses
-
PID: 4161105
-
Davis SD, Schaller J, Wedgwood RJ (1966) Job’s syndrome recurrent “cold” Staphylococcal abscesses. Lancet 1(7445):1013–1015
-
(1966)
Lancet
, vol.1
, Issue.7445
, pp. 1013-1015
-
-
Davis, S.D.1
Schaller, J.2
Wedgwood, R.J.3
-
26
-
-
77649234621
-
Somatic mosaicism in the Wiskott–Aldrich syndrome: molecular and functional characterization of genotypic revertants
-
PID: 20123155
-
Davis BR et al (2010) Somatic mosaicism in the Wiskott–Aldrich syndrome: molecular and functional characterization of genotypic revertants. Clin Immunol 135(1):72–83
-
(2010)
Clin Immunol
, vol.135
, Issue.1
, pp. 72-83
-
-
Davis, B.R.1
-
27
-
-
0017887996
-
Defective neutrophil chemotaxis and raised serum ige levels in a child with recurrent bacterial infections and eczema. Influence of levamisole
-
PID: 306223
-
De Cree J et al (1978) Defective neutrophil chemotaxis and raised serum ige levels in a child with recurrent bacterial infections and eczema. Influence of levamisole. Arch Dis Child 53(2):144–149
-
(1978)
Arch Dis Child
, vol.53
, Issue.2
, pp. 144-149
-
-
De Cree, J.1
-
28
-
-
46949086109
-
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells
-
PID: 18591412
-
de Beaucoudrey L et al (2008) Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med 205(7):1543–1550
-
(2008)
J Exp Med
, vol.205
, Issue.7
, pp. 1543-1550
-
-
de Beaucoudrey, L.1
-
29
-
-
84888101388
-
Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells
-
PID: 24218138
-
Deenick EK et al (2013) Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells. J Exp Med 210(12):2739–2753
-
(2013)
J Exp Med
, vol.210
, Issue.12
, pp. 2739-2753
-
-
Deenick, E.K.1
-
30
-
-
84931403287
-
Inherited DOCK2 deficiency in patients with early-onset invasive infections
-
PID: 26083206
-
Dobbs K et al (2015) Inherited DOCK2 deficiency in patients with early-onset invasive infections. N Engl J Med 372(25):2409–2422
-
(2015)
N Engl J Med
, vol.372
, Issue.25
, pp. 2409-2422
-
-
Dobbs, K.1
-
31
-
-
0020606692
-
The hyperimmunoglobulin E recurrent-infection (Job’s) syndrome. A review of the NIH experience and the literature
-
PID: 6348470
-
Donabedian H, Gallin JI (1983) The hyperimmunoglobulin E recurrent-infection (Job’s) syndrome. A review of the NIH experience and the literature. Medicine 62(4):195–208
-
(1983)
Medicine
, vol.62
, Issue.4
, pp. 195-208
-
-
Donabedian, H.1
Gallin, J.I.2
-
32
-
-
0020319883
-
Levamisole is inferior to placebo in the hyperimmunoglobulin E recurrent-infection (Job’s) syndrome
-
PID: 6806658
-
Donabedian H, Alling DW, Gallin JI (1982) Levamisole is inferior to placebo in the hyperimmunoglobulin E recurrent-infection (Job’s) syndrome. N Engl J Med 307(5):290–292
-
(1982)
N Engl J Med
, vol.307
, Issue.5
, pp. 290-292
-
-
Donabedian, H.1
Alling, D.W.2
Gallin, J.I.3
-
33
-
-
0021943760
-
Immunoglobulins in the hyperimmunoglobulin E and recurrent infection (Job’s) syndrome. Deficiency of anti-Staphylococcus aureus immunoglobulin A
-
PID: 3871199
-
Dreskin SC, Goldsmith PK, Gallin JI (1985) Immunoglobulins in the hyperimmunoglobulin E and recurrent infection (Job’s) syndrome. Deficiency of anti-Staphylococcus aureus immunoglobulin A. J Clin Invest 75(1):26–34
-
(1985)
J Clin Invest
, vol.75
, Issue.1
, pp. 26-34
-
-
Dreskin, S.C.1
Goldsmith, P.K.2
Gallin, J.I.3
-
34
-
-
71149115670
-
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
-
PID: 20004785
-
Engelhardt KR et al (2009) Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol 124(6):1289–1302
-
(2009)
J Allergy Clin Immunol
, vol.124
, Issue.6
, pp. 1289-1302
-
-
Engelhardt, K.R.1
-
35
-
-
84938738886
-
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
-
PID: 25724123
-
Engelhardt KR et al (2015) The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 136(2):402–412
-
(2015)
J Allergy Clin Immunol
, vol.136
, Issue.2
, pp. 402-412
-
-
Engelhardt, K.R.1
-
36
-
-
46149109233
-
Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control study
-
PID: 18521703
-
Enomoto H et al (2008) Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control study. J Hum Genet 53(7):615–621
-
(2008)
J Hum Genet
, vol.53
, Issue.7
, pp. 615-621
-
-
Enomoto, H.1
-
37
-
-
84925188671
-
Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R
-
PID: 25769540
-
Erman B et al (2015) Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R. Haematologica 100(6):e216-9
-
(2015)
Haematologica
, vol.100
, Issue.6
-
-
Erman, B.1
-
38
-
-
84936847612
-
Delayed control of herpes simplex virus infection and impaired CD4(+) T-cell migration to the skin in mouse models of DOCK8 deficiency
-
PID: 25776845
-
Flesch IE et al (2015) Delayed control of herpes simplex virus infection and impaired CD4(+) T-cell migration to the skin in mouse models of DOCK8 deficiency. Immunol Cell Biol 93(6):517–521
-
(2015)
Immunol Cell Biol
, vol.93
, Issue.6
, pp. 517-521
-
-
Flesch, I.E.1
-
39
-
-
31544474862
-
Critical role for Stat3 in T-dependent terminal differentiation of IgG B cells
-
PID: 16223771
-
Fornek JL et al (2006) Critical role for Stat3 in T-dependent terminal differentiation of IgG B cells. Blood 107(3):1085–1091
-
(2006)
Blood
, vol.107
, Issue.3
, pp. 1085-1091
-
-
Fornek, J.L.1
-
40
-
-
78650648441
-
Clinical manifestations of hyper IgE syndromes
-
PID: 21178271
-
Freeman AF, Holland SM (2010) Clinical manifestations of hyper IgE syndromes. Dis Markers 29(3–4):123–130
-
(2010)
Dis Markers
, vol.29
, Issue.3-4
, pp. 123-130
-
-
Freeman, A.F.1
Holland, S.M.2
-
41
-
-
85052885459
-
ZNF341 controls STAT3 expression and thereby immunocompetence
-
PID: 29907690
-
Frey-Jakobs S et al (2018) ZNF341 controls STAT3 expression and thereby immunocompetence. Sci Immunol 3(24):eaat4941
-
(2018)
Sci Immunol
, vol.3
, Issue.24
, pp. eaat4941
-
-
Frey-Jakobs, S.1
-
42
-
-
84992317629
-
Tyrosine kinase 2 is not limiting human antiviral type III interferon responses
-
PID: 27615517
-
Fuchs S et al (2016) Tyrosine kinase 2 is not limiting human antiviral type III interferon responses. Eur J Immunol 46(11):2639–2649
-
(2016)
Eur J Immunol
, vol.46
, Issue.11
, pp. 2639-2649
-
-
Fuchs, S.1
-
43
-
-
17944375813
-
Haematopoietic cell-specific CDM family protein DOCK2 is essential for lymphocyte migration
-
PID: 11518968
-
Fukui Y et al (2001) Haematopoietic cell-specific CDM family protein DOCK2 is essential for lymphocyte migration. Nature 412(6849):826–831
-
(2001)
Nature
, vol.412
, Issue.6849
, pp. 826-831
-
-
Fukui, Y.1
-
44
-
-
84908111732
-
Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy
-
PID: 25153381
-
Furio L, Hovnanian A (2014) Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy. Biol Chem 395(9):945–958
-
(2014)
Biol Chem
, vol.395
, Issue.9
, pp. 945-958
-
-
Furio, L.1
Hovnanian, A.2
-
45
-
-
0018602223
-
Phagocyte chemotaxis
-
PID: 390059
-
Gammon WR (1979) Phagocyte chemotaxis. J Invest Dermatol 73(6):515–520
-
(1979)
J Invest Dermatol
, vol.73
, Issue.6
, pp. 515-520
-
-
Gammon, W.R.1
-
46
-
-
84944610909
-
A synthetic lethal interaction between glutathione synthesis and mitochondrial reactive oxygen species provides a tumor-specific vulnerability dependent on STAT3
-
PID: 26283727
-
Garama DJ et al (2015) A synthetic lethal interaction between glutathione synthesis and mitochondrial reactive oxygen species provides a tumor-specific vulnerability dependent on STAT3. Mol Cell Biol 35(21):3646–3656
-
(2015)
Mol Cell Biol
, vol.35
, Issue.21
, pp. 3646-3656
-
-
Garama, D.J.1
-
47
-
-
0032972806
-
Regulation of immunoglobulin production in hyper-IgE (Job’s) syndrome
-
PID: 9949327
-
Garraud O et al (1999) Regulation of immunoglobulin production in hyper-IgE (Job’s) syndrome. J Allergy Clin Immunol 103(2 Pt 1):333–340
-
(1999)
J Allergy Clin Immunol
, vol.103
, Issue.2
, pp. 333-340
-
-
Garraud, O.1
-
48
-
-
47249101206
-
Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report
-
PID: 18546280
-
Gaspar IM et al (2008) Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report. Am J Med Genet A 146A(13):1748–1753
-
(2008)
Am J Med Genet A
, vol.146A
, Issue.13
, pp. 1748-1753
-
-
Gaspar, I.M.1
-
49
-
-
0022401734
-
Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees
-
PID: 3863481
-
Goldman D et al (1985) Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees. Am J Hum Genet 37(5):898–911
-
(1985)
Am J Hum Genet
, vol.37
, Issue.5
, pp. 898-911
-
-
Goldman, D.1
-
50
-
-
67649988989
-
Mitochondrial STAT3 supports Ras-dependent oncogenic transformation
-
PID: 19556508
-
Gough DJ et al (2009) Mitochondrial STAT3 supports Ras-dependent oncogenic transformation. Science 324(5935):1713–1716
-
(2009)
Science
, vol.324
, Issue.5935
, pp. 1713-1716
-
-
Gough, D.J.1
-
51
-
-
84896691813
-
The MEK-ERK pathway is necessary for serine phosphorylation of mitochondrial STAT3 and Ras-mediated transformation
-
PID: 24312439
-
Gough DJ, Koetz L, Levy DE (2013) The MEK-ERK pathway is necessary for serine phosphorylation of mitochondrial STAT3 and Ras-mediated transformation. PLoS ONE 8(11):e83395
-
(2013)
PLoS ONE
, vol.8
, Issue.11
-
-
Gough, D.J.1
Koetz, L.2
Levy, D.E.3
-
52
-
-
34547913040
-
Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development
-
PID: 17548465
-
Greig KT et al (2007) Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development. Mol Cell Biol 27(16):5849–5859
-
(2007)
Mol Cell Biol
, vol.27
, Issue.16
, pp. 5849-5859
-
-
Greig, K.T.1
-
53
-
-
0032499069
-
The interleukin-4 receptor variant Q576R in hyper-IgE syndrome
-
PID: 9537881
-
Grimbacher B, Holland SM, Puck JM (1998) The interleukin-4 receptor variant Q576R in hyper-IgE syndrome. N Engl J Med 338(15):1073–1074
-
(1998)
N Engl J Med
, vol.338
, Issue.15
, pp. 1073-1074
-
-
Grimbacher, B.1
Holland, S.M.2
Puck, J.M.3
-
54
-
-
0033362156
-
Genetic linkage of hyper-IgE syndrome to chromosome 4
-
PID: 10441580
-
Grimbacher B et al (1999a) Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 65(3):735–744
-
(1999)
Am J Hum Genet
, vol.65
, Issue.3
, pp. 735-744
-
-
Grimbacher, B.1
-
55
-
-
0033522220
-
Hyper-IgE syndrome with recurrent infections–an autosomal dominant multisystem disorder
-
PID: 10053178
-
Grimbacher B et al (1999b) Hyper-IgE syndrome with recurrent infections–an autosomal dominant multisystem disorder. N Engl J Med 340(9):692–702
-
(1999)
N Engl J Med
, vol.340
, Issue.9
, pp. 692-702
-
-
Grimbacher, B.1
-
56
-
-
84875454223
-
Dedicator of cytokinesis 8 interacts with talin and Wiskott–Aldrich syndrome protein to regulate NK cell cytotoxicity
-
PID: 23455509
-
Ham H et al (2013) Dedicator of cytokinesis 8 interacts with talin and Wiskott–Aldrich syndrome protein to regulate NK cell cytotoxicity. J Immunol 190(7):3661–3669
-
(2013)
J Immunol
, vol.190
, Issue.7
, pp. 3661-3669
-
-
Ham, H.1
-
57
-
-
84927648378
-
HkRP3 is a microtubule-binding protein regulating lytic granule clustering and NK cell killing
-
PID: 25762780
-
Ham H et al (2015) HkRP3 is a microtubule-binding protein regulating lytic granule clustering and NK cell killing. J Immunol 194(8):3984–3996
-
(2015)
J Immunol
, vol.194
, Issue.8
, pp. 3984-3996
-
-
Ham, H.1
-
58
-
-
84861078339
-
DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses
-
PID: 22461490
-
Harada Y et al (2012) DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses. Blood 119(19):4451–4461
-
(2012)
Blood
, vol.119
, Issue.19
, pp. 4451-4461
-
-
Harada, Y.1
-
59
-
-
85029864660
-
IgG1 memory B cells keep the memory of IgE responses
-
PID: 28935935
-
He JS et al (2017) IgG1 memory B cells keep the memory of IgE responses. Nat Commun 8(1):641
-
(2017)
Nat Commun
, vol.8
, Issue.1
, pp. 641
-
-
He, J.S.1
-
62
-
-
0015981727
-
Raised serum-IgE levels and defective neutrophil chemotaxis in three children with eczema and recurrent bacterial infections
-
PID: 4129875
-
Hill HR, Quie PG (1974) Raised serum-IgE levels and defective neutrophil chemotaxis in three children with eczema and recurrent bacterial infections. Lancet 1(7850):183–187
-
(1974)
Lancet
, vol.1
, Issue.7850
, pp. 183-187
-
-
Hill, H.R.1
Quie, P.G.2
-
63
-
-
0016175385
-
Defect in neutrophil granulocyte chemotaxis in Job’s syndrome of recurrent “cold” staphylococcal abscesses
-
PID: 4137601
-
Hill HR et al (1974) Defect in neutrophil granulocyte chemotaxis in Job’s syndrome of recurrent “cold” staphylococcal abscesses. Lancet 2(7881):617–619
-
(1974)
Lancet
, vol.2
, Issue.7881
, pp. 617-619
-
-
Hill, H.R.1
-
64
-
-
0017086525
-
Severe staphylococcal disease associated with allergic manifestations, hyperimmunoglobulinemia E, and defective neutrophil chemotaxis
-
PID: 978042
-
Hill HR et al (1976) Severe staphylococcal disease associated with allergic manifestations, hyperimmunoglobulinemia E, and defective neutrophil chemotaxis. J Lab Clin Med 88(5):796–806
-
(1976)
J Lab Clin Med
, vol.88
, Issue.5
, pp. 796-806
-
-
Hill, H.R.1
-
65
-
-
84966551223
-
STAT3 signaling in immunity
-
PID: 27185365
-
Hillmer EJ et al (2016) STAT3 signaling in immunity. Cytokine Growth Factor Rev 31:1–15
-
(2016)
Cytokine Growth Factor Rev
, vol.31
, pp. 1-15
-
-
Hillmer, E.J.1
-
66
-
-
35348960378
-
STAT3 mutations in the hyper-IgE syndrome
-
PID: 17881745
-
Holland SM et al (2007) STAT3 mutations in the hyper-IgE syndrome. N Engl J Med 357(16):1608–1619
-
(2007)
N Engl J Med
, vol.357
, Issue.16
, pp. 1608-1619
-
-
Holland, S.M.1
-
67
-
-
0014005822
-
Fatal granulomatous disease of childhood. An inborn abnormality of phagocytic function
-
PID: 4161205
-
Holmes B et al (1966) Fatal granulomatous disease of childhood. An inborn abnormality of phagocytic function. Lancet 1(7449):1225–1228
-
(1966)
Lancet
, vol.1
, Issue.7449
, pp. 1225-1228
-
-
Holmes, B.1
-
68
-
-
0014289533
-
A third phosphoglucomutase locus in man
-
PID: 5691704
-
Hopkinson DA, Harris H (1968) A third phosphoglucomutase locus in man. Ann Hum Genet 31(4):359–367
-
(1968)
Ann Hum Genet
, vol.31
, Issue.4
, pp. 359-367
-
-
Hopkinson, D.A.1
Harris, H.2
-
69
-
-
84878539074
-
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism
-
PID: 23623265
-
Hsu AP et al (2013) Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism. J Allergy Clin Immunol 131(6):1586–1593
-
(2013)
J Allergy Clin Immunol
, vol.131
, Issue.6
, pp. 1586-1593
-
-
Hsu, A.P.1
-
70
-
-
84928568835
-
IL-6 as a keystone cytokine in health and disease
-
PID: 25898198
-
Hunter CA, Jones SA (2015) IL-6 as a keystone cytokine in health and disease. Nat Immunol 16(5):448–457
-
(2015)
Nat Immunol
, vol.16
, Issue.5
, pp. 448-457
-
-
Hunter, C.A.1
Jones, S.A.2
-
72
-
-
0013992501
-
Physicochemical properties of reaginic antibody. V. Correlation of reaginic activity wth gamma-E-globulin antibody
-
PID: 4163008
-
Ishizaka K, Ishizaka T, Hornbrook MM (1966a) Physicochemical properties of reaginic antibody. V. Correlation of reaginic activity wth gamma-E-globulin antibody. J Immunol 97(6):840–853
-
(1966)
J Immunol
, vol.97
, Issue.6
, pp. 840-853
-
-
Ishizaka, K.1
Ishizaka, T.2
Hornbrook, M.M.3
-
73
-
-
0013929577
-
Physico-chemical properties of human reaginic antibody. IV. Presence of a unique immunoglobulin as a carrier of reaginic activity
-
PID: 4162440
-
Ishizaka K, Ishizaka T, Hornbrook MM (1966b) Physico-chemical properties of human reaginic antibody. IV. Presence of a unique immunoglobulin as a carrier of reaginic activity. J Immunol 97(1):75–85
-
(1966)
J Immunol
, vol.97
, Issue.1
, pp. 75-85
-
-
Ishizaka, K.1
Ishizaka, T.2
Hornbrook, M.M.3
-
74
-
-
84861236002
-
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation
-
PID: 22581261
-
Jabara HH et al (2012) DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nat Immunol 13(6):612–620
-
(2012)
Nat Immunol
, vol.13
, Issue.6
, pp. 612-620
-
-
Jabara, H.H.1
-
75
-
-
84991628476
-
A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton
-
PID: 27599296
-
Janssen E et al (2016) A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton. J Clin Invest 126(10):3837–3851
-
(2016)
J Clin Invest
, vol.126
, Issue.10
, pp. 3837-3851
-
-
Janssen, E.1
-
76
-
-
85044824257
-
DOCK8 enforces immunological tolerance by promoting IL-2 signaling and immune synapse formation in Tregs
-
Janssen E et al (2017) DOCK8 enforces immunological tolerance by promoting IL-2 signaling and immune synapse formation in Tregs. JCI Insight 2(19):e94298
-
(2017)
JCI Insight
, vol.2
, Issue.19
-
-
Janssen, E.1
-
77
-
-
84959377675
-
DOCK8: regulator of Treg in response to corticotropin-releasing hormone
-
PID: 26799599
-
Jin S et al (2016) DOCK8: regulator of Treg in response to corticotropin-releasing hormone. Allergy 71(6):811–819
-
(2016)
Allergy
, vol.71
, Issue.6
, pp. 811-819
-
-
Jin, S.1
-
78
-
-
84901777686
-
Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype
-
PID: 24797421
-
Jing H et al (2014) Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype. J Allergy Clin Immunol 133(6):1667–1675
-
(2014)
J Allergy Clin Immunol
, vol.133
, Issue.6
, pp. 1667-1675
-
-
Jing, H.1
-
79
-
-
0014135334
-
Immunological studies of an atypical (myeloma) immunoglobulin
-
PID: 4168094
-
Johansson SG, Bennich H (1967) Immunological studies of an atypical (myeloma) immunoglobulin. Immunology 13(4):381–394
-
(1967)
Immunology
, vol.13
, Issue.4
, pp. 381-394
-
-
Johansson, S.G.1
Bennich, H.2
-
80
-
-
85019552403
-
IgE sensitization in relation to preschool eczema and filaggrin mutation
-
PID: 28456621
-
Johansson EK et al (2017) IgE sensitization in relation to preschool eczema and filaggrin mutation. J Allergy Clin Immunol 140(6):1572–1579 e5
-
(2017)
J Allergy Clin Immunol
, vol.140
, Issue.6
, pp. 1572-1579 e5
-
-
Johansson, E.K.1
-
81
-
-
84979538907
-
B-cell-specific STAT3 deficiency: insight into the molecular basis of autosomal-dominant hyper-IgE syndrome
-
PID: 27423495
-
Kane A et al (2016) B-cell-specific STAT3 deficiency: insight into the molecular basis of autosomal-dominant hyper-IgE syndrome. J Allergy Clin Immunol 138(5):1455–1458 e3
-
(2016)
J Allergy Clin Immunol
, vol.138
, Issue.5
, pp. 1455-1458 e3
-
-
Kane, A.1
-
82
-
-
84994666598
-
A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene
-
PID: 27543783
-
Kasparek P et al (2016) A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene. Biol Chem 397(12):1287–1292
-
(2016)
Biol Chem
, vol.397
, Issue.12
, pp. 1287-1292
-
-
Kasparek, P.1
-
83
-
-
85028985289
-
DOCK8 Drives Src-dependent NK cell effector function
-
Kearney CJ et al (2017) DOCK8 Drives Src-dependent NK cell effector function. J Immunol 199:2118–2127
-
(2017)
J Immunol
, vol.199
, pp. 2118-2127
-
-
Kearney, C.J.1
-
84
-
-
84977487188
-
Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation
-
PID: 27350570
-
Keles S et al (2016) Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation. J Allergy Clin Immunol 138(5):1384–1394 e2
-
(2016)
J Allergy Clin Immunol
, vol.138
, Issue.5
, pp. 1384-1394
-
-
Keles, S.1
-
85
-
-
84907542629
-
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis
-
PID: 24498618
-
Keupp K et al (2013) Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis. Mol Genet Genomic Med 1(4):223–237
-
(2013)
Mol Genet Genomic Med
, vol.1
, Issue.4
, pp. 223-237
-
-
Keupp, K.1
-
86
-
-
27744449724
-
IL-6-STAT3 controls intracellular MHC class II alphabeta dimer level through cathepsin S activity in dendritic cells
-
PID: 16286017
-
Kitamura H et al (2005) IL-6-STAT3 controls intracellular MHC class II alphabeta dimer level through cathepsin S activity in dendritic cells. Immunity 23(5):491–502
-
(2005)
Immunity
, vol.23
, Issue.5
, pp. 491-502
-
-
Kitamura, H.1
-
87
-
-
0942276831
-
Differential contribution of Wiskott–Aldrich syndrome protein to selective advantage in T- and B-cell lineages
-
PID: 14504083
-
Konno A et al (2004) Differential contribution of Wiskott–Aldrich syndrome protein to selective advantage in T- and B-cell lineages. Blood 103(2):676–678
-
(2004)
Blood
, vol.103
, Issue.2
, pp. 676-678
-
-
Konno, A.1
-
88
-
-
85019124877
-
Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations
-
PID: 28334964
-
Kosfeld A et al (2017) Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations. Hum Mol Genet 26(9):1716–1731
-
(2017)
Hum Mol Genet
, vol.26
, Issue.9
, pp. 1716-1731
-
-
Kosfeld, A.1
-
89
-
-
84877614089
-
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
-
PID: 23440042
-
Kotlarz D et al (2013) Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med 210(3):433–443
-
(2013)
J Exp Med
, vol.210
, Issue.3
, pp. 433-443
-
-
Kotlarz, D.1
-
90
-
-
84927696786
-
Human IL-21 and IL-21R deficiencies: two novel entities of primary immunodeficiency
-
PID: 25321844
-
Kotlarz D et al (2014) Human IL-21 and IL-21R deficiencies: two novel entities of primary immunodeficiency. Curr Opin Pediatr 26(6):704–712
-
(2014)
Curr Opin Pediatr
, vol.26
, Issue.6
, pp. 704-712
-
-
Kotlarz, D.1
-
91
-
-
84944807941
-
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
-
PID: 26304966
-
Kreins AY et al (2015) Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. J Exp Med 212(10):1641–1662
-
(2015)
J Exp Med
, vol.212
, Issue.10
, pp. 1641-1662
-
-
Kreins, A.Y.1
-
92
-
-
84924308188
-
Coincidental loss of DOCK8 function in NLRP10-deficient and C3H/HeJ mice results in defective dendritic cell migration
-
PID: 25713392
-
Krishnaswamy JK et al (2015) Coincidental loss of DOCK8 function in NLRP10-deficient and C3H/HeJ mice results in defective dendritic cell migration. Proc Natl Acad Sci USA 112(10):3056–3061
-
(2015)
Proc Natl Acad Sci USA
, vol.112
, Issue.10
, pp. 3056-3061
-
-
Krishnaswamy, J.K.1
-
93
-
-
77649172701
-
Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases
-
PID: 20093388
-
Kumanovics A et al (2010) Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. J Mol Diagn 12(2):213–219
-
(2010)
J Mol Diagn
, vol.12
, Issue.2
, pp. 213-219
-
-
Kumanovics, A.1
-
94
-
-
82255181388
-
DOCK8 is essential for T-cell survival and the maintenance of CD8 + T-cell memory
-
PID: 21969276
-
Lambe T et al (2011) DOCK8 is essential for T-cell survival and the maintenance of CD8 + T-cell memory. Eur J Immunol 41(12):3423–3435
-
(2011)
Eur J Immunol
, vol.41
, Issue.12
, pp. 3423-3435
-
-
Lambe, T.1
-
95
-
-
0347480225
-
STAT3 is required for Flt3L-dependent dendritic cell differentiation
-
PID: 14670306
-
Laouar Y et al (2003) STAT3 is required for Flt3L-dependent dendritic cell differentiation. Immunity 19(6):903–912
-
(2003)
Immunity
, vol.19
, Issue.6
, pp. 903-912
-
-
Laouar, Y.1
-
96
-
-
85006873332
-
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency
-
PID: 27930337
-
Levy R et al (2016) Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency. Proc Natl Acad Sci USA 113(51):E8277–E8285
-
(2016)
Proc Natl Acad Sci USA
, vol.113
, Issue.51
, pp. E8277-E8285
-
-
Levy, R.1
-
97
-
-
84937713659
-
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis
-
PID: 25918342
-
Ling Y et al (2015) Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. J Exp Med 212(5):619–631
-
(2015)
J Exp Med
, vol.212
, Issue.5
, pp. 619-631
-
-
Ling, Y.1
-
98
-
-
79961154447
-
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
-
PID: 21727188
-
Liu L et al (2011) Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med 208(8):1635–1648
-
(2011)
J Exp Med
, vol.208
, Issue.8
, pp. 1635-1648
-
-
Liu, L.1
-
99
-
-
84957948812
-
Human B-cell isotype switching origins of IgE
-
PID: 26309181
-
Looney TJ et al (2016) Human B-cell isotype switching origins of IgE. J Allergy Clin Immunol 137(2):579–586 e7
-
(2016)
J Allergy Clin Immunol
, vol.137
, Issue.2
, pp. 579-586 e7
-
-
Looney, T.J.1
-
100
-
-
84945280026
-
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene
-
PID: 26482871
-
Lundin KE et al (2015) Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene. Clin Immunol 161(2):366–372
-
(2015)
Clin Immunol
, vol.161
, Issue.2
, pp. 366-372
-
-
Lundin, K.E.1
-
102
-
-
85119038728
-
Glycans instructing immunity: the emerging role of altered glycosylation in clinical immunology
-
PID: 26125015
-
Lyons JJ, Milner JD, Rosenzweig SD (2015) Glycans instructing immunity: the emerging role of altered glycosylation in clinical immunology. Front Pediatr 3:54
-
(2015)
Front Pediatr
, vol.3
, pp. 54
-
-
Lyons, J.J.1
Milner, J.D.2
Rosenzweig, S.D.3
-
103
-
-
85027530748
-
ERBIN deficiency links STAT3 and TGF-beta pathway defects with atopy in humans
-
PID: 28126831
-
Lyons JJ et al (2017) ERBIN deficiency links STAT3 and TGF-beta pathway defects with atopy in humans. J Exp Med 214(3):669–680
-
(2017)
J Exp Med
, vol.214
, Issue.3
, pp. 669-680
-
-
Lyons, J.J.1
-
104
-
-
46949089128
-
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3
-
PID: 18591410
-
Ma CS et al (2008) Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J Exp Med 205(7):1551–1557
-
(2008)
J Exp Med
, vol.205
, Issue.7
, pp. 1551-1557
-
-
Ma, C.S.1
-
105
-
-
84982938276
-
Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4 + T cells into distinct effector subsets
-
PID: 27401342
-
Ma CS et al (2016) Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4 + T cells into distinct effector subsets. J Exp Med 213(8):1589–1608
-
(2016)
J Exp Med
, vol.213
, Issue.8
, pp. 1589-1608
-
-
Ma, C.S.1
-
106
-
-
85026377652
-
Germline hypomorphic CARD11 mutations in severe atopic disease
-
PID: 28628108
-
Ma CA et al (2017) Germline hypomorphic CARD11 mutations in severe atopic disease. Nat Genet 49(8):1192–1201
-
(2017)
Nat Genet
, vol.49
, Issue.8
, pp. 1192-1201
-
-
Ma, C.A.1
-
107
-
-
85030661298
-
DOCK8 and STAT3 dependent inhibition of IgE isotype switching by TLR9 ligation in human B cells
-
PID: 28882618
-
Massaad MJ et al (2017) DOCK8 and STAT3 dependent inhibition of IgE isotype switching by TLR9 ligation in human B cells. Clin Immunol 183:263–265
-
(2017)
Clin Immunol
, vol.183
, pp. 263-265
-
-
Massaad, M.J.1
-
108
-
-
77951886963
-
Dendritic cell (DC)-specific targeting reveals Stat3 as a negative regulator of DC function
-
PID: 20124100
-
Melillo JA et al (2010) Dendritic cell (DC)-specific targeting reveals Stat3 as a negative regulator of DC function. J Immunol 184(5):2638–2645
-
(2010)
J Immunol
, vol.184
, Issue.5
, pp. 2638-2645
-
-
Melillo, J.A.1
-
109
-
-
84998772520
-
Diagnostic value of exome and whole genome sequencing in craniosynostosis
-
PID: 27884935
-
Miller KA et al (2017) Diagnostic value of exome and whole genome sequencing in craniosynostosis. J Med Genet 54(4):260–268
-
(2017)
J Med Genet
, vol.54
, Issue.4
, pp. 260-268
-
-
Miller, K.A.1
-
110
-
-
33846287885
-
Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory disease
-
PID: 17202252
-
Milner JD et al (2007) Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory disease. Proc Natl Acad Sci USA 104(2):576–581
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, Issue.2
, pp. 576-581
-
-
Milner, J.D.1
-
111
-
-
41449110468
-
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
-
PID: 18337720
-
Milner JD et al (2008) Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature 452(7188):773–776
-
(2008)
Nature
, vol.452
, Issue.7188
, pp. 773-776
-
-
Milner, J.D.1
-
112
-
-
33845897463
-
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
-
PID: 17088085
-
Minegishi Y et al (2006) Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 25(5):745–755
-
(2006)
Immunity
, vol.25
, Issue.5
, pp. 745-755
-
-
Minegishi, Y.1
-
113
-
-
34548317417
-
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
-
PID: 17676033
-
Minegishi Y et al (2007) Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 448(7157):1058–1062
-
(2007)
Nature
, vol.448
, Issue.7157
, pp. 1058-1062
-
-
Minegishi, Y.1
-
114
-
-
67449149963
-
Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome
-
PID: 19487419
-
Minegishi Y et al (2009) Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. J Exp Med 206(6):1291–1301
-
(2009)
J Exp Med
, vol.206
, Issue.6
, pp. 1291-1301
-
-
Minegishi, Y.1
-
115
-
-
84961743213
-
Dock8 interacts with Nck1 in mediating Schwann cell precursor migration
-
PID: 28955869
-
Miyamoto Y et al (2016) Dock8 interacts with Nck1 in mediating Schwann cell precursor migration. Biochem Biophys Rep 6:113–123
-
(2016)
Biochem Biophys Rep
, vol.6
, pp. 113-123
-
-
Miyamoto, Y.1
-
116
-
-
84875226021
-
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency
-
PID: 23380217
-
Mizesko MC et al (2013) Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 131(3):840–848
-
(2013)
J Allergy Clin Immunol
, vol.131
, Issue.3
, pp. 840-848
-
-
Mizesko, M.C.1
-
117
-
-
84900454945
-
STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties
-
PID: 24058807
-
Mogensen TH (2013) STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties. JAKSTAT 2(2):e23435
-
(2013)
JAKSTAT
, vol.2
, Issue.2
-
-
Mogensen, T.H.1
-
118
-
-
70449210905
-
A unique case of trichorrhexis nodosa; bamboo hairs
-
PID: 13582191
-
Netherton EW (1958) A unique case of trichorrhexis nodosa; bamboo hairs. AMA Arch Derm 78(4):483–487
-
(1958)
AMA Arch Derm
, vol.78
, Issue.4
, pp. 483-487
-
-
Netherton, E.W.1
-
119
-
-
77951434599
-
STAT3 controls the neutrophil migratory response to CXCR2 ligands by direct activation of G-CSF-induced CXCR2 expression and via modulation of CXCR2 signal transduction
-
PID: 20185584
-
Nguyen-Jackson H et al (2010) STAT3 controls the neutrophil migratory response to CXCR2 ligands by direct activation of G-CSF-induced CXCR2 expression and via modulation of CXCR2 signal transduction. Blood 115(16):3354–3363
-
(2010)
Blood
, vol.115
, Issue.16
, pp. 3354-3363
-
-
Nguyen-Jackson, H.1
-
120
-
-
80051547705
-
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth
-
PID: 21741611
-
Nieminen P et al (2011) Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. Am J Hum Genet 89(1):67–81
-
(2011)
Am J Hum Genet
, vol.89
, Issue.1
, pp. 67-81
-
-
Nieminen, P.1
-
121
-
-
84921325808
-
The JAK-STAT pathway: impact on human disease and therapeutic intervention
-
PID: 25587654
-
O’Shea JJ et al (2015) The JAK-STAT pathway: impact on human disease and therapeutic intervention. Annu Rev Med 66:311–328
-
(2015)
Annu Rev Med
, vol.66
, pp. 311-328
-
-
O’Shea, J.J.1
-
122
-
-
84973560562
-
Fifty years later: Emerging functions of IgE antibodies in host defense, immune regulation, and allergic diseases
-
PID: 27263999
-
Oettgen HC (2016) Fifty years later: Emerging functions of IgE antibodies in host defense, immune regulation, and allergic diseases. J Allergy Clin Immunol 137(6):1631–1645
-
(2016)
J Allergy Clin Immunol
, vol.137
, Issue.6
, pp. 1631-1645
-
-
Oettgen, H.C.1
-
123
-
-
33748195979
-
Glycosylation in cellular mechanisms of health and disease
-
PID: 16959566
-
Ohtsubo K, Marth JD (2006) Glycosylation in cellular mechanisms of health and disease. Cell 126(5):855–867
-
(2006)
Cell
, vol.126
, Issue.5
, pp. 855-867
-
-
Ohtsubo, K.1
Marth, J.D.2
-
124
-
-
84939154723
-
IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
-
PID: 26160376
-
Okada S et al (2015) IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. Science 349(6248):606–613
-
(2015)
Science
, vol.349
, Issue.6248
, pp. 606-613
-
-
Okada, S.1
-
125
-
-
84891754308
-
Clinical features of Candidiasis in patients with inherited interleukin 12 receptor beta1 deficiency
-
PID: 24186907
-
Ouederni M et al (2014) Clinical features of Candidiasis in patients with inherited interleukin 12 receptor beta1 deficiency. Clin Infect Dis 58(2):204–213
-
(2014)
Clin Infect Dis
, vol.58
, Issue.2
, pp. 204-213
-
-
Ouederni, M.1
-
126
-
-
84920224694
-
Immunological abnormalities in Job’s syndrome
-
Pabst HF et al (1971) Immunological abnormalities in Job’s syndrome. Pediatr Res 5:380
-
(1971)
Pediatr Res
, vol.5
, pp. 380
-
-
Pabst, H.F.1
-
127
-
-
84863794143
-
Expansion of somatically reverted memory CD8 + T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus
-
PID: 22493517
-
Palendira U et al (2012) Expansion of somatically reverted memory CD8 + T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus. J Exp Med 209(5):913–924
-
(2012)
J Exp Med
, vol.209
, Issue.5
, pp. 913-924
-
-
Palendira, U.1
-
128
-
-
0036521070
-
Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1)
-
PID: 12174217
-
Pang H et al (2002) Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1). Ann Hum Genet 66(Pt 2):139–144
-
(2002)
Ann Hum Genet
, vol.66
, pp. 139-144
-
-
Pang, H.1
-
129
-
-
33845239481
-
STAT3 governs distinct pathways in emergency granulopoiesis and mature neutrophils
-
PID: 16888100
-
Panopoulos AD et al (2006) STAT3 governs distinct pathways in emergency granulopoiesis and mature neutrophils. Blood 108(12):3682–3690
-
(2006)
Blood
, vol.108
, Issue.12
, pp. 3682-3690
-
-
Panopoulos, A.D.1
-
130
-
-
0017684756
-
Atopic dermatitis and impaired neutrophil chemotaxis in Job’s syndrome
-
PID: 869552
-
Paslin D, Norman ME (1977) Atopic dermatitis and impaired neutrophil chemotaxis in Job’s syndrome. Arch Dermatol 113(6):801–805
-
(1977)
Arch Dermatol
, vol.113
, Issue.6
, pp. 801-805
-
-
Paslin, D.1
Norman, M.E.2
-
131
-
-
56749174754
-
Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3
-
PID: 18978467
-
Paulson ML, Freeman AF, Holland SM (2008) Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. Curr Opin Allergy Clin Immunol 8(6):527–533
-
(2008)
Curr Opin Allergy Clin Immunol
, vol.8
, Issue.6
, pp. 527-533
-
-
Paulson, M.L.1
Freeman, A.F.2
Holland, S.M.3
-
132
-
-
85042309382
-
Congenital disorders of glycosylation (CDG): Quo vadis?
-
Peanne R et al (2017) Congenital disorders of glycosylation (CDG): Quo vadis? Eur J Med Genet 10.1016/j.ejmg.2017.10.012
-
(2017)
Eur J Med Genet
-
-
Peanne, R.1
-
133
-
-
1542396389
-
IgE production by normal human lymphocytes is induced by interleukin 4 and suppressed by interferons gamma and alpha and prostaglandin E2
-
PID: 2970644
-
Pene J et al (1988) IgE production by normal human lymphocytes is induced by interleukin 4 and suppressed by interferons gamma and alpha and prostaglandin E2. Proc Natl Acad Sci USA 85(18):6880–6884
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, Issue.18
, pp. 6880-6884
-
-
Pene, J.1
-
134
-
-
85030673480
-
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity
-
PID: 29226302
-
Picard C et al (2018) International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol 38(1):96–128
-
(2018)
J Clin Immunol
, vol.38
, Issue.1
, pp. 96-128
-
-
Picard, C.1
-
135
-
-
0016703481
-
Defective neutrophil chemotaxis with variant ichthyosis, hyperimmunoglobulinemia E, and recurrent infections
-
PID: 1185392
-
Pincus SH et al (1975) Defective neutrophil chemotaxis with variant ichthyosis, hyperimmunoglobulinemia E, and recurrent infections. J Pediatr 87(6 Pt 1):908–911
-
(1975)
J Pediatr
, vol.87
, Issue.6
, pp. 908-911
-
-
Pincus, S.H.1
-
136
-
-
0015418897
-
Immunochemical identification of mouse IgE
-
PID: 4628461
-
Prouvost-Danon A et al (1972) Immunochemical identification of mouse IgE. Immunology 23(4):481–491
-
(1972)
Immunology
, vol.23
, Issue.4
, pp. 481-491
-
-
Prouvost-Danon, A.1
-
137
-
-
77955710658
-
Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?
-
PID: 20674321
-
Puel A et al (2010a) Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines? Curr Opin Immunol 22(4):467–474
-
(2010)
Curr Opin Immunol
, vol.22
, Issue.4
, pp. 467-474
-
-
Puel, A.1
-
138
-
-
77149124612
-
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I
-
PID: 20123958
-
Puel A et al (2010b) Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med 207(2):291–297
-
(2010)
J Exp Med
, vol.207
, Issue.2
, pp. 291-297
-
-
Puel, A.1
-
139
-
-
79953284685
-
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity
-
PID: 21350122
-
Puel A et al (2011) Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science 332(6025):65–68
-
(2011)
Science
, vol.332
, Issue.6025
, pp. 65-68
-
-
Puel, A.1
-
140
-
-
84871321329
-
Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis
-
PID: 23026768
-
Puel A et al (2012) Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol 12(6):616–622
-
(2012)
Curr Opin Allergy Clin Immunol
, vol.12
, Issue.6
, pp. 616-622
-
-
Puel, A.1
-
141
-
-
0027522374
-
Interleukin 13 induces interleukin 4-independent IgG4 and IgE synthesis and CD23 expression by human B cells
-
PID: 8097323
-
Punnonen J et al (1993) Interleukin 13 induces interleukin 4-independent IgG4 and IgE synthesis and CD23 expression by human B cells. Proc Natl Acad Sci USA 90(8):3730–3734
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, Issue.8
, pp. 3730-3734
-
-
Punnonen, J.1
-
142
-
-
70449718702
-
Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production
-
PID: 19898472
-
Randall KL et al (2009) Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production. Nat Immunol 10(12):1283–1291
-
(2009)
Nat Immunol
, vol.10
, Issue.12
, pp. 1283-1291
-
-
Randall, K.L.1
-
143
-
-
80055107954
-
DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice
-
PID: 22006977
-
Randall KL et al (2011) DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. J Exp Med 208(11):2305–2320
-
(2011)
J Exp Med
, vol.208
, Issue.11
, pp. 2305-2320
-
-
Randall, K.L.1
-
144
-
-
9144261081
-
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity
-
PID: 14722525
-
Renner ED et al (2004) Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 144(1):93–99
-
(2004)
J Pediatr
, vol.144
, Issue.1
, pp. 93-99
-
-
Renner, E.D.1
-
145
-
-
35348997007
-
STAT3 mutation in the original patient with Job’s syndrome
-
PID: 17942886
-
Renner ED et al (2007) STAT3 mutation in the original patient with Job’s syndrome. N Engl J Med 357(16):1667–1668
-
(2007)
N Engl J Med
, vol.357
, Issue.16
, pp. 1667-1668
-
-
Renner, E.D.1
-
146
-
-
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
-
PID: 18602572
-
Renner ED et al (2008) 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 122(1):181–187
-
(2008)
J Allergy Clin Immunol
, vol.122
, Issue.1
, pp. 181-187
-
-
Renner, E.D.1
-
147
-
-
4143087241
-
Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology
-
PID: 15304341
-
Ruusala A, Aspenstrom P (2004) Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology. FEBS Lett 572(1–3):159–166
-
(2004)
FEBS Lett
, vol.572
, Issue.1-3
, pp. 159-166
-
-
Ruusala, A.1
Aspenstrom, P.2
-
148
-
-
84901778963
-
Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency
-
PID: 24746753
-
Salzer E et al (2014) Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency. J Allergy Clin Immunol 133(6):1651–1659 e12
-
(2014)
J Allergy Clin Immunol
, vol.133
, Issue.6
, pp. 1651-1659 e12
-
-
Salzer, E.1
-
149
-
-
84908086816
-
Peeling off the genetics of atopic dermatitis-like congenital disorders
-
PID: 25282561
-
Samuelov L, Sprecher E (2014) Peeling off the genetics of atopic dermatitis-like congenital disorders. J Allergy Clin Immunol 134(4):808–815
-
(2014)
J Allergy Clin Immunol
, vol.134
, Issue.4
, pp. 808-815
-
-
Samuelov, L.1
Sprecher, E.2
-
150
-
-
85000399361
-
Netherton syndrome: a genotype-phenotype review
-
PID: 27905021
-
Sarri CA et al (2017) Netherton syndrome: a genotype-phenotype review. Mol Diagn Ther 21(2):137–152
-
(2017)
Mol Diagn Ther
, vol.21
, Issue.2
, pp. 137-152
-
-
Sarri, C.A.1
-
151
-
-
84899629014
-
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels
-
PID: 24698316
-
Sassi A et al (2014) Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol 133(5):1410–1419, 1419 e1-13
-
(2014)
J Allergy Clin Immunol
, vol.133
, Issue.5
, pp. 1410-1419
-
-
Sassi, A.1
-
152
-
-
0018376023
-
Staphylococcal IgE antibodies, hyperimmunoglobulinemia E and Staphylococcus aureus infections
-
PID: 423920
-
Schopfer K et al (1979) Staphylococcal IgE antibodies, hyperimmunoglobulinemia E and Staphylococcus aureus infections. N Engl J Med 300(15):835–838
-
(1979)
N Engl J Med
, vol.300
, Issue.15
, pp. 835-838
-
-
Schopfer, K.1
-
153
-
-
85028822001
-
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
-
PID: 28747427
-
Schwerd T et al (2017) A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. J Exp Med 214(9):2547–2562
-
(2017)
J Exp Med
, vol.214
, Issue.9
, pp. 2547-2562
-
-
Schwerd, T.1
-
154
-
-
85027940079
-
Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation
-
PID: 24184145
-
Siegel AM et al (2013) Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation. J Allergy Clin Immunol 132(6):1388–1396
-
(2013)
J Allergy Clin Immunol
, vol.132
, Issue.6
, pp. 1388-1396
-
-
Siegel, A.M.1
-
155
-
-
84907336842
-
DOCK8 regulates protective immunity by controlling the function and survival of RORgammat + ILCs
-
PID: 25091235
-
Singh AK et al (2014) DOCK8 regulates protective immunity by controlling the function and survival of RORgammat + ILCs. Nat Commun 5:4603
-
(2014)
Nat Commun
, vol.5
, pp. 4603
-
-
Singh, A.K.1
-
156
-
-
85044825289
-
DOCK8 regulates fitness and function of regulatory T cells through modulation of IL-2 signaling
-
Singh AK et al (2017) DOCK8 regulates fitness and function of regulatory T cells through modulation of IL-2 signaling. JCI Insight 10.1172/jci.insight.94275
-
(2017)
JCI Insight
-
-
Singh, A.K.1
-
157
-
-
33644622891
-
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
-
PID: 16444271
-
Smith FJ et al (2006) Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 38(3):337–342
-
(2006)
Nat Genet
, vol.38
, Issue.3
, pp. 337-342
-
-
Smith, F.J.1
-
158
-
-
84870301013
-
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES)
-
PID: 22981789
-
Spielberger BD et al (2012) Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES). J Allergy Clin Immunol 130(6):1426–1428
-
(2012)
J Allergy Clin Immunol
, vol.130
, Issue.6
, pp. 1426-1428
-
-
Spielberger, B.D.1
-
159
-
-
84944285120
-
Hyperimmunoglobulin E syndrome
-
PID: 646400
-
Stanley J et al (1978) Hyperimmunoglobulin E syndrome. Arch Dermatol 114(5):765–767
-
(1978)
Arch Dermatol
, vol.114
, Issue.5
, pp. 765-767
-
-
Stanley, J.1
-
160
-
-
84900428801
-
A mouse model of HIES reveals pro- and anti-inflammatory functions of STAT3
-
PID: 24632714
-
Steward-Tharp SM et al (2014) A mouse model of HIES reveals pro- and anti-inflammatory functions of STAT3. Blood 123(19):2978–2987
-
(2014)
Blood
, vol.123
, Issue.19
, pp. 2978-2987
-
-
Steward-Tharp, S.M.1
-
161
-
-
84904036824
-
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
-
PID: 24931394
-
Stray-Pedersen A et al (2014) PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet 95(1):96–107
-
(2014)
Am J Hum Genet
, vol.95
, Issue.1
, pp. 96-107
-
-
Stray-Pedersen, A.1
-
162
-
-
0033034365
-
Enhanced Th1 activity and development of chronic enterocolitis in mice devoid of Stat3 in macrophages and neutrophils
-
PID: 10023769
-
Takeda K et al (1999) Enhanced Th1 activity and development of chronic enterocolitis in mice devoid of Stat3 in macrophages and neutrophils. Immunity 10(1):39–49
-
(1999)
Immunity
, vol.10
, Issue.1
, pp. 39-49
-
-
Takeda, K.1
-
163
-
-
84994545621
-
Dedicator of cytokinesis 8-deficient CD4(+) T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells
-
PID: 27554822
-
Tangye SG et al (2017) Dedicator of cytokinesis 8-deficient CD4(+) T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells. J Allergy Clin Immunol 139(3):933–949
-
(2017)
J Allergy Clin Immunol
, vol.139
, Issue.3
, pp. 933-949
-
-
Tangye, S.G.1
-
164
-
-
75849163775
-
Revertant T lymphocytes in a patient with Wiskott–Aldrich syndrome: analysis of function and distribution in lymphoid organs
-
PID: 20159256
-
Trifari S et al (2010) Revertant T lymphocytes in a patient with Wiskott–Aldrich syndrome: analysis of function and distribution in lymphoid organs. J Allergy Clin Immunol 125(2):439–448 e8
-
(2010)
J Allergy Clin Immunol
, vol.125
, Issue.2
, pp. 439-448 e8
-
-
Trifari, S.1
-
165
-
-
0016516870
-
Familial neutrophil chemotaxis defect, recurrent bacterial infections, mucocutaneous candidiasis, and hyperimmunoglobulinemia E
-
PID: 1138587
-
Van Scoy RE et al (1975) Familial neutrophil chemotaxis defect, recurrent bacterial infections, mucocutaneous candidiasis, and hyperimmunoglobulinemia E. Ann Intern Med 82(6):766–771
-
(1975)
Ann Intern Med
, vol.82
, Issue.6
, pp. 766-771
-
-
Van Scoy, R.E.1
-
166
-
-
80255134530
-
T-regulatory cells in primary immune deficiencies
-
PID: 21986549
-
Verbsky JW, Chatila TA (2011) T-regulatory cells in primary immune deficiencies. Curr Opin Allergy Clin Immunol 11(6):539–544
-
(2011)
Curr Opin Allergy Clin Immunol
, vol.11
, Issue.6
, pp. 539-544
-
-
Verbsky, J.W.1
Chatila, T.A.2
-
167
-
-
84919684042
-
Mechanisms of Jak/STAT signaling in immunity and disease
-
PID: 25527793
-
Villarino AV et al (2015) Mechanisms of Jak/STAT signaling in immunity and disease. J Immunol 194(1):21–27
-
(2015)
J Immunol
, vol.194
, Issue.1
, pp. 21-27
-
-
Villarino, A.V.1
-
168
-
-
84946485705
-
The Ying and Yang of STAT3 in Human Disease
-
PID: 26280891
-
Vogel TP, Milner JD, Cooper MA (2015) The Ying and Yang of STAT3 in Human Disease. J Clin Immunol 35(7):615–623
-
(2015)
J Clin Immunol
, vol.35
, Issue.7
, pp. 615-623
-
-
Vogel, T.P.1
Milner, J.D.2
Cooper, M.A.3
-
169
-
-
56749159848
-
Somatic mosaicism in primary immune deficiencies
-
PID: 18978464
-
Wada T, Candotti F (2008) Somatic mosaicism in primary immune deficiencies. Curr Opin Allergy Clin Immunol 8(6):510–514
-
(2008)
Curr Opin Allergy Clin Immunol
, vol.8
, Issue.6
, pp. 510-514
-
-
Wada, T.1
Candotti, F.2
-
170
-
-
0038665327
-
Second-site mutation in the Wiskott–Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings
-
PID: 12727931
-
Wada T et al (2003) Second-site mutation in the Wiskott–Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J Clin Invest 111(9):1389–1397
-
(2003)
J Clin Invest
, vol.111
, Issue.9
, pp. 1389-1397
-
-
Wada, T.1
-
171
-
-
4444267906
-
Multiple patients with revertant mosaicism in a single Wiskott–Aldrich syndrome family
-
PID: 15142877
-
Wada T et al (2004) Multiple patients with revertant mosaicism in a single Wiskott–Aldrich syndrome family. Blood 104(5):1270–1272
-
(2004)
Blood
, vol.104
, Issue.5
, pp. 1270-1272
-
-
Wada, T.1
-
172
-
-
59849101586
-
Function of mitochondrial Stat3 in cellular respiration
-
PID: 19131594
-
Wegrzyn J et al (2009) Function of mitochondrial Stat3 in cellular respiration. Science 323(5915):793–797
-
(2009)
Science
, vol.323
, Issue.5915
, pp. 793-797
-
-
Wegrzyn, J.1
-
173
-
-
0017581865
-
A hyperimmunoglobulin E syndrome with normal chemotaxis in vitro and defective leukotaxis in vivo
-
PID: 299862
-
Weston WL et al (1977) A hyperimmunoglobulin E syndrome with normal chemotaxis in vitro and defective leukotaxis in vivo. J Allergy Clin Immunol 59(2):115–119
-
(1977)
J Allergy Clin Immunol
, vol.59
, Issue.2
, pp. 115-119
-
-
Weston, W.L.1
-
174
-
-
0014687350
-
Leucocytes in Job’s syndrome
-
PID: 4180157
-
White LR et al (1969) Leucocytes in Job’s syndrome. Lancet 1(7595):630
-
(1969)
Lancet
, vol.1
, Issue.7595
, pp. 630
-
-
White, L.R.1
-
175
-
-
84958568613
-
Genetic defects in the hexosamine and sialic acid biosynthesis pathway
-
PID: 26721333
-
Willems AP, van Engelen BG, Lefeber DJ (2016) Genetic defects in the hexosamine and sialic acid biosynthesis pathway. Biochim Biophys Acta 1860(8):1640–1654
-
(2016)
Biochim Biophys Acta
, vol.1860
, Issue.8
, pp. 1640-1654
-
-
Willems, A.P.1
van Engelen, B.G.2
Lefeber, D.J.3
-
176
-
-
84980000578
-
STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function
-
PID: 25941256
-
Wilson RP et al (2015) STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function. J Exp Med 212(6):855–864
-
(2015)
J Exp Med
, vol.212
, Issue.6
, pp. 855-864
-
-
Wilson, R.P.1
-
177
-
-
0017112864
-
A familial defect in cellular chemotaxis associated with redheadedness and recurrent infection
-
PID: 932900
-
Witemeyer S, Van Epps DE (1976) A familial defect in cellular chemotaxis associated with redheadedness and recurrent infection. J Pediatr 89(1):33–37
-
(1976)
J Pediatr
, vol.89
, Issue.1
, pp. 33-37
-
-
Witemeyer, S.1
Van Epps, D.E.2
-
178
-
-
76049116822
-
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
-
PID: 20159255
-
Woellner C et al (2010) Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol 125(2):424–432 e8
-
(2010)
J Allergy Clin Immunol
, vol.125
, Issue.2
, pp. 424-432 e8
-
-
Woellner, C.1
-
179
-
-
78851471039
-
PD-L1 expression on tolerogenic APCs is controlled by STAT-3
-
PID: 21268011
-
Wolfle SJ et al (2011) PD-L1 expression on tolerogenic APCs is controlled by STAT-3. Eur J Immunol 41(2):413–424
-
(2011)
Eur J Immunol
, vol.41
, Issue.2
, pp. 413-424
-
-
Wolfle, S.J.1
-
180
-
-
84950253163
-
Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation
-
PID: 26687240
-
Wu G et al (2016) Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation. Glycoconj J 33(3):447–456
-
(2016)
Glycoconj J
, vol.33
, Issue.3
, pp. 447-456
-
-
Wu, G.1
-
181
-
-
84856937184
-
Sequential class switching is required for the generation of high affinity IgE antibodies
-
PID: 22249450
-
Xiong H et al (2012) Sequential class switching is required for the generation of high affinity IgE antibodies. J Exp Med 209(2):353–364
-
(2012)
J Exp Med
, vol.209
, Issue.2
, pp. 353-364
-
-
Xiong, H.1
-
182
-
-
85008471270
-
LRCH1 interferes with DOCK8-Cdc42-induced T cell migration and ameliorates experimental autoimmune encephalomyelitis
-
PID: 28028151
-
Xu X et al (2017) LRCH1 interferes with DOCK8-Cdc42-induced T cell migration and ameliorates experimental autoimmune encephalomyelitis. J Exp Med 214(1):209–226
-
(2017)
J Exp Med
, vol.214
, Issue.1
, pp. 209-226
-
-
Xu, X.1
-
183
-
-
41849116690
-
Roles of unphosphorylated STATs in signaling
-
PID: 18364677
-
Yang J, Stark GR (2008) Roles of unphosphorylated STATs in signaling. Cell Res 18(4):443–451
-
(2008)
Cell Res
, vol.18
, Issue.4
, pp. 443-451
-
-
Yang, J.1
Stark, G.R.2
-
184
-
-
13444309088
-
Novel roles of unphosphorylated STAT3 in oncogenesis and transcriptional regulation
-
PID: 15705894
-
Yang J et al (2005) Novel roles of unphosphorylated STAT3 in oncogenesis and transcriptional regulation. Cancer Res 65(3):939–947
-
(2005)
Cancer Res
, vol.65
, Issue.3
, pp. 939-947
-
-
Yang, J.1
-
185
-
-
34247593586
-
STAT3 regulates cytokine-mediated generation of inflammatory helper T cells
-
PID: 17277312
-
Yang XO et al (2007a) STAT3 regulates cytokine-mediated generation of inflammatory helper T cells. J Biol Chem 282(13):9358–9363
-
(2007)
J Biol Chem
, vol.282
, Issue.13
, pp. 9358-9363
-
-
Yang, X.O.1
-
186
-
-
34249868449
-
Unphosphorylated STAT3 accumulates in response to IL-6 and activates transcription by binding to NFkappaB
-
PID: 17510282
-
Yang J et al (2007b) Unphosphorylated STAT3 accumulates in response to IL-6 and activates transcription by binding to NFkappaB. Genes Dev 21(11):1396–1408
-
(2007)
Genes Dev
, vol.21
, Issue.11
, pp. 1396-1408
-
-
Yang, J.1
-
187
-
-
84927670632
-
Hyper-IgE syndromes: reviewing PGM3 deficiency
-
PID: 25365149
-
Yang L, Fliegauf M, Grimbacher B (2014) Hyper-IgE syndromes: reviewing PGM3 deficiency. Curr Opin Pediatr 26(6):697–703
-
(2014)
Curr Opin Pediatr
, vol.26
, Issue.6
, pp. 697-703
-
-
Yang, L.1
Fliegauf, M.2
Grimbacher, B.3
-
188
-
-
84905921877
-
Stuve-Wiedemann syndrome: is it underrecognized?
-
Yesil G et al (2014) Stuve-Wiedemann syndrome: is it underrecognized? Am J Med Genet A 164(9):2200–2205
-
(2014)
Am J Med Genet A
, vol.164
, Issue.9
, pp. 2200-2205
-
-
Yesil, G.1
-
189
-
-
0018654016
-
Studies on the frequencies of PGM1, PGM3 and Es-D types from hair roots in Japanese subjects and the determination of these types from old hair roots
-
PID: 468082
-
Yoshida H, Abe T, Nakamura F (1979) Studies on the frequencies of PGM1, PGM3 and Es-D types from hair roots in Japanese subjects and the determination of these types from old hair roots. Forensic Sci Int 14(1):1–7
-
(1979)
Forensic Sci Int
, vol.14
, Issue.1
, pp. 1-7
-
-
Yoshida, H.1
Abe, T.2
Nakamura, F.3
-
190
-
-
85042130308
-
Immunoglobulin E—an innocent bystander in host defense?
-
PID: 29450679
-
Zhang Q, Seppanen MRJ (2018) Immunoglobulin E—an innocent bystander in host defense? J Clin Immunol 38:223–224
-
(2018)
J Clin Immunol
, vol.38
, pp. 223-224
-
-
Zhang, Q.1
Seppanen, M.R.J.2
-
191
-
-
80955148980
-
Hyperimmunoglobulin E syndromes in pediatrics
-
PID: 21970826
-
Zhang Q, Su HC (2011) Hyperimmunoglobulin E syndromes in pediatrics. Curr Opin Pediatr 23(6):653–658
-
(2011)
Curr Opin Pediatr
, vol.23
, Issue.6
, pp. 653-658
-
-
Zhang, Q.1
Su, H.C.2
-
192
-
-
70949098060
-
Combined immunodeficiency associated with DOCK8 mutations
-
PID: 19776401
-
Zhang Q et al (2009) Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 361(21):2046–2055
-
(2009)
N Engl J Med
, vol.361
, Issue.21
, pp. 2046-2055
-
-
Zhang, Q.1
-
193
-
-
77957725130
-
STAT3 controls myeloid progenitor growth during emergency granulopoiesis
-
PID: 20581311
-
Zhang H et al (2010) STAT3 controls myeloid progenitor growth during emergency granulopoiesis. Blood 116(14):2462–2471
-
(2010)
Blood
, vol.116
, Issue.14
, pp. 2462-2471
-
-
Zhang, H.1
-
194
-
-
84899618667
-
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
-
PID: 24589341
-
Zhang Y et al (2014a) Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol 133(5):1400–1409, 1409 e1-5
-
(2014)
J Allergy Clin Immunol
, vol.133
, Issue.5
, pp. 1400-1409
-
-
Zhang, Y.1
-
195
-
-
84922130866
-
STAT3 restrains RANK- and TLR4-mediated signalling by suppressing expression of the E2 ubiquitin-conjugating enzyme Ubc13
-
PID: 25503582
-
Zhang H et al (2014b) STAT3 restrains RANK- and TLR4-mediated signalling by suppressing expression of the E2 ubiquitin-conjugating enzyme Ubc13. Nat Commun 5:5798
-
(2014)
Nat Commun
, vol.5
, pp. 5798
-
-
Zhang, H.1
-
196
-
-
84924283592
-
DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity
-
PID: 25422492
-
Zhang Q et al (2014c) DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity. J Exp Med 211(13):2549–2566
-
(2014)
J Exp Med
, vol.211
, Issue.13
, pp. 2549-2566
-
-
Zhang, Q.1
-
197
-
-
84969930907
-
Recent Advances in DOCK8 Immunodeficiency Syndrome
-
PID: 27207373
-
Zhang Q, Jing H, Su HC (2016) Recent Advances in DOCK8 Immunodeficiency Syndrome. J Clin Immunol 36(5):441–449
-
(2016)
J Clin Immunol
, vol.36
, Issue.5
, pp. 441-449
-
-
Zhang, Q.1
Jing, H.2
Su, H.C.3
|