-
1
-
-
70949098060
-
Combined immunodeficiency associated with DOCK8 mutations
-
Zhang, Q. et al. 2009. Combined immunodeficiency associated with DOCK8 mutations. N. Engl. J. Med. 361: 2046-2055.
-
(2009)
N. Engl. J. Med.
, vol.361
, pp. 2046-2055
-
-
Zhang, Q.1
-
2
-
-
71149115670
-
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
-
e1284
-
Engelhardt, K.R. 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: 1289-1302.e1284.
-
(2009)
J. Allergy Clin. Immunol.
, vol.124
, pp. 1289-1302
-
-
Engelhardt, K.R.1
-
3
-
-
4143087241
-
Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology
-
Ruusala, A. & P. Aspenstrom. 2004. Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology. FEBS Lett. 572: 159-166.
-
(2004)
FEBS Lett.
, vol.572
, pp. 159-166
-
-
Ruusala, A.1
Aspenstrom, P.2
-
4
-
-
0037115488
-
Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity
-
Cote, J.F. & K. Vuori. 2002. Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity. J. Cell. Sci. 115: 4901-4913.
-
(2002)
J. Cell. Sci.
, vol.115
, pp. 4901-4913
-
-
Cote, J.F.1
Vuori, K.2
-
5
-
-
70249085230
-
Rho family GTPases and their regulators in lymphocytes
-
Tybulewicz, V.L. & R.B. Henderson. 2009. Rho family GTPases and their regulators in lymphocytes. Nat. Rev. Immunol. 9: 630-644.
-
(2009)
Nat. Rev. Immunol.
, vol.9
, pp. 630-644
-
-
Tybulewicz, V.L.1
Henderson, R.B.2
-
6
-
-
78650648441
-
Clinical manifestations of hyper IgE syndromes
-
Freeman, A.F. & S.M. Holland. 2010. Clinical manifestations of hyper IgE syndromes. Dis. Markers 29: 123-130.
-
(2010)
Dis. Markers
, vol.29
, pp. 123-130
-
-
Freeman, A.F.1
Holland, S.M.2
-
7
-
-
34548317417
-
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
-
Minegishi, Y. et al. 2007. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 448: 1058-1062.
-
(2007)
Nature
, vol.448
, pp. 1058-1062
-
-
Minegishi, Y.1
-
8
-
-
35348960378
-
STAT3 mutations in the hyper-IgE syndrome
-
Holland, S.M. et al. 2007. STAT3 mutations in the hyper-IgE syndrome. N. Engl. J. Med. 357: 1608-1619.
-
(2007)
N. Engl. J. Med.
, vol.357
, pp. 1608-1619
-
-
Holland, S.M.1
-
9
-
-
76049116822
-
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
-
Woellner, C. et al. 2010. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J. Allergy Clin. Immunol. 125: 424-432.
-
(2010)
J. Allergy Clin. Immunol.
, vol.125
, pp. 424-432
-
-
Woellner, C.1
-
10
-
-
9144261081
-
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity
-
Renner, E.D. et al. 2004. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J. Pediatr. 144: 93-99.
-
(2004)
J. Pediatr.
, vol.144
, pp. 93-99
-
-
Renner, E.D.1
-
11
-
-
33845897463
-
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
-
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: 745-755.
-
(2006)
Immunity
, vol.25
, pp. 745-755
-
-
Minegishi, Y.1
-
12
-
-
34248505013
-
The hyper IgE syndrome and mutations in TYK2
-
author reply 536
-
Woellner, C. et al. 2007. The hyper IgE syndrome and mutations in TYK2. Immunity 26: 535; author reply 536.
-
(2007)
Immunity
, vol.26
, pp. 535
-
-
Woellner, C.1
-
13
-
-
79961127020
-
Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease
-
Grant, A.V. et al. 2011. Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease. J. Med. Genet. 48: 567-571.
-
(2011)
J. Med. Genet.
, vol.48
, pp. 567-571
-
-
Grant, A.V.1
-
14
-
-
57149128460
-
Primary immune deficiencies with aberrant IgE production
-
quiz 1063-1054
-
Ozcan, E., L.D. Notarangelo & R.S. Geha. 2008. Primary immune deficiencies with aberrant IgE production. J. Allergy Clin. Immunol. 122: 1054-1062; quiz 1063-1054.
-
(2008)
J. Allergy Clin. Immunol.
, vol.122
, pp. 1054-1062
-
-
Ozcan, E.1
Notarangelo, L.D.2
Geha, R.S.3
-
15
-
-
82255181388
-
DOCK8 is essential for T-cell survival and the maintenance of CD8(+) T-cell memory
-
Epub ahead of print
-
Lambe, T. et al. 2011. DOCK8 is essential for T-cell survival and the maintenance of CD8(+) T-cell memory. Eur. J. Immunol. [Epub ahead of print] doi:.
-
(2011)
Eur. J. Immunol.
-
-
Lambe, T.1
-
16
-
-
80055107954
-
DOCK8 deficiency cripples CD8 T cells in humans and mice
-
Randall, K.L. et al. 2011. DOCK8 deficiency cripples CD8 T cells in humans and mice. J. Exp. Med. 208: 2305-2320.
-
(2011)
J. Exp. Med.
, vol.208
, pp. 2305-2320
-
-
Randall, K.L.1
-
17
-
-
80054842183
-
Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening
-
Dasouki, M. et al. 2011. Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. Clin. Immunol. 141: 128-132.
-
(2011)
Clin. Immunol.
, vol.141
, pp. 128-132
-
-
Dasouki, M.1
-
18
-
-
70449718702
-
Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production
-
Randall, K.l. et al. 2009. Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production. Nat. Immunol. 10: 1283-1291.
-
(2009)
Nat. Immunol.
, vol.10
, pp. 1283-1291
-
-
Randall, K.1
-
19
-
-
17944375813
-
Haematopoietic cell-specific CDM family protein DOCK2 is essential for lymphocyte migration
-
Fukui, Y. et al. 2001. Haematopoietic cell-specific CDM family protein DOCK2 is essential for lymphocyte migration. Nature 412: 826-831.
-
(2001)
Nature
, vol.412
, pp. 826-831
-
-
Fukui, Y.1
-
20
-
-
4444335344
-
Differential requirements for DOCK2 and phosphoinositide-3-kinase gamma during T and B lymphocyte homing
-
Nombela-Arrieta, C. et al. 2004. Differential requirements for DOCK2 and phosphoinositide-3-kinase gamma during T and B lymphocyte homing. Immunity 21: 429-441.
-
(2004)
Immunity
, vol.21
, pp. 429-441
-
-
Nombela-Arrieta, C.1
-
21
-
-
33947411398
-
A central role for DOCK2 during interstitial lymphocyte motility and sphingosine-1-phosphate-mediated egress
-
Nombela-Arrieta, C. et al. 2007. A central role for DOCK2 during interstitial lymphocyte motility and sphingosine-1-phosphate-mediated egress. J. Exp. Med. 204: 497-510.
-
(2007)
J. Exp. Med.
, vol.204
, pp. 497-510
-
-
Nombela-Arrieta, C.1
-
22
-
-
0038445857
-
DOCK2 is essential for antigen-induced translocation of TCR and lipid rafts, but not PKC-theta and LFA-1, in T cells
-
Sanui, T. et al. 2003. DOCK2 is essential for antigen-induced translocation of TCR and lipid rafts, but not PKC-theta and LFA-1, in T cells. Immunity 19: 119-129.
-
(2003)
Immunity
, vol.19
, pp. 119-129
-
-
Sanui, T.1
-
23
-
-
34548792917
-
T helper type 2 differentiation and intracellular trafficking of the interleukin 4 receptor-alpha subunit controlled by the Rac activator Dock2
-
Tanaka, Y. et al. 2007. T helper type 2 differentiation and intracellular trafficking of the interleukin 4 receptor-alpha subunit controlled by the Rac activator Dock2. Nat. Immunol. 8: 1067-1075.
-
(2007)
Nat. Immunol.
, vol.8
, pp. 1067-1075
-
-
Tanaka, Y.1
-
24
-
-
79961014871
-
Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency
-
Barlogis, V. et al. 2011. Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency. J. Allergy Clin. Immunol. 128: 420-422.e2.
-
(2011)
J. Allergy Clin. Immunol.
, vol.128
-
-
Barlogis, V.1
-
25
-
-
77951055351
-
Selective control of type I IFN induction by the Rac activator DOCK2 during TLR-mediated plasmacytoid dendritic cell activation
-
Gotoh, K. et al. 2010. Selective control of type I IFN induction by the Rac activator DOCK2 during TLR-mediated plasmacytoid dendritic cell activation. J. Exp. Med. 207: 721-730.
-
(2010)
J. Exp. Med.
, vol.207
, pp. 721-730
-
-
Gotoh, K.1
-
26
-
-
78650637719
-
The Wiskott-Aldrich syndrome: the actin cytoskeleton and immune cell function
-
Blundell, M.P. et al. 2010. The Wiskott-Aldrich syndrome: the actin cytoskeleton and immune cell function. Dis. Markers 29: 157-175.
-
(2010)
Dis. Markers
, vol.29
, pp. 157-175
-
-
Blundell, M.P.1
-
27
-
-
78650650415
-
CXCL12/CXCR4-axis dysfunctions: markers of the rare immunodeficiency disorder WHIM syndrome
-
Bachelerie, F. 2010. CXCL12/CXCR4-axis dysfunctions: markers of the rare immunodeficiency disorder WHIM syndrome. Dis. Markers 29: 189-198.
-
(2010)
Dis. Markers
, vol.29
, pp. 189-198
-
-
Bachelerie, F.1
-
28
-
-
67651225115
-
Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome
-
348.e341-345
-
Al Khatib, S. et al. 2009. Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. J. Allergy Clin. Immunol. 124: 342-348, 348.e341-345.
-
(2009)
J. Allergy Clin. Immunol.
, vol.124
, pp. 342-348
-
-
Al Khatib, S.1
-
29
-
-
41449110468
-
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
-
Milner, J.D. et al. 2008. Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature 452: 773-776.
-
(2008)
Nature
, vol.452
, pp. 773-776
-
-
Milner, J.D.1
-
30
-
-
77956368467
-
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis
-
e611
-
Schimke, L.F. et al. 2010. Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J. Allergy Clin. Immunol. 126: 611-617.e611.
-
(2010)
J. Allergy Clin. Immunol.
, vol.126
, pp. 611-617
-
-
Schimke, L.F.1
-
31
-
-
78650642735
-
Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome
-
Zhang, Q. et al. 2010. Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. Dis. Markers 29: 131-139.
-
(2010)
Dis. Markers
, vol.29
, pp. 131-139
-
-
Zhang, Q.1
-
32
-
-
79953284685
-
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity
-
Puel, A. et al. 2011. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science 332: 65-68.
-
(2011)
Science
, vol.332
, pp. 65-68
-
-
Puel, A.1
-
33
-
-
46949089128
-
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3
-
Ma, C.S. et al. 2008. Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J. Exp. Med. 205: 1551-1557.
-
(2008)
J. Exp. Med.
, vol.205
, pp. 1551-1557
-
-
Ma, C.S.1
-
34
-
-
46949086109
-
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells
-
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: 1543-1550.
-
(2008)
J. Exp. Med.
, vol.205
, pp. 1543-1550
-
-
de Beaucoudrey, L.1
-
35
-
-
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, E.D. 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: 181-187.
-
(2008)
J. Allergy Clin. Immunol.
, vol.122
, pp. 181-187
-
-
Renner, E.D.1
-
36
-
-
67449149963
-
Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome
-
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: 1291-1301.
-
(2009)
J. Exp. Med.
, vol.206
, pp. 1291-1301
-
-
Minegishi, Y.1
-
37
-
-
79951682333
-
Opposing regulation of the locus encoding IL-17 through direct, reciprocal actions of STAT3 and STAT5
-
Yang, X.P. et al. 2011. Opposing regulation of the locus encoding IL-17 through direct, reciprocal actions of STAT3 and STAT5. Nat. Immunol. 12: 247-254.
-
(2011)
Nat. Immunol.
, vol.12
, pp. 247-254
-
-
Yang, X.P.1
-
38
-
-
78349303895
-
Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation
-
Bittner, T.C. et al. 2010. Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation. Klin. Padiatr. 222: 351-355.
-
(2010)
Klin. Padiatr.
, vol.222
, pp. 351-355
-
-
Bittner, T.C.1
-
39
-
-
78449249501
-
Dedicator of cytokinesis 8 (DOCK8) deficiency
-
Su, H.C. 2010. Dedicator of cytokinesis 8 (DOCK8) deficiency. Curr. Opin. Allergy Clin. Immunol. 10: 515-520.
-
(2010)
Curr. Opin. Allergy Clin. Immunol.
, vol.10
, pp. 515-520
-
-
Su, H.C.1
-
40
-
-
0034519420
-
Microcystic adnexal carcinoma associated with primary immunodeficiency, recurrent diffuse herpes simplex virus infection, and cutaneous T-cell lymphoma
-
Lei, J.Y. et al. 2000. Microcystic adnexal carcinoma associated with primary immunodeficiency, recurrent diffuse herpes simplex virus infection, and cutaneous T-cell lymphoma. Am. J. Dermatopathol. 22: 524-529.
-
(2000)
Am. J. Dermatopathol.
, vol.22
, pp. 524-529
-
-
Lei, J.Y.1
-
41
-
-
26944490279
-
Identification of chromosome arm 9p as the most frequent target of homozygous deletions in lung cancer
-
Sato, M. et al. 2005. Identification of chromosome arm 9p as the most frequent target of homozygous deletions in lung cancer. Genes Chromosomes Cancer 44: 405-414.
-
(2005)
Genes Chromosomes Cancer
, vol.44
, pp. 405-414
-
-
Sato, M.1
-
42
-
-
33846673486
-
Homozygous deletion and reduced expression of the DOCK8 gene in human lung cancer
-
Takahashi, K. et al. 2006. Homozygous deletion and reduced expression of the DOCK8 gene in human lung cancer. Int. J. Oncol. 28: 321-328.
-
(2006)
Int. J. Oncol.
, vol.28
, pp. 321-328
-
-
Takahashi, K.1
-
43
-
-
2342569751
-
Genome-wide array-based comparative genomic hybridization reveals multiple amplification targets and novel homozygous deletions in pancreatic carcinoma cell lines
-
Heidenblad, M. et al. 2004. Genome-wide array-based comparative genomic hybridization reveals multiple amplification targets and novel homozygous deletions in pancreatic carcinoma cell lines. Cancer Res. 64: 3052-3059.
-
(2004)
Cancer Res.
, vol.64
, pp. 3052-3059
-
-
Heidenblad, M.1
-
44
-
-
77954150124
-
Frequent silence of chromosome 9p, homozygous DOCK8, DMRT1 and DMRT3 deletion at 9p24.3 in squamous cell carcinoma of the lung
-
Kang, J.U. et al. 2010. Frequent silence of chromosome 9p, homozygous DOCK8, DMRT1 and DMRT3 deletion at 9p24.3 in squamous cell carcinoma of the lung. Int. J. Oncol. 37: 327-335.
-
(2010)
Int. J. Oncol.
, vol.37
, pp. 327-335
-
-
Kang, J.U.1
-
45
-
-
33750210541
-
Genomic loss and epigenetic silencing of very-low-density lipoprotein receptor involved in gastric carcinogenesis
-
Takada, H. et al. 2006. Genomic loss and epigenetic silencing of very-low-density lipoprotein receptor involved in gastric carcinogenesis. Oncogene 25: 6554-6562.
-
(2006)
Oncogene
, vol.25
, pp. 6554-6562
-
-
Takada, H.1
-
46
-
-
53349129739
-
Genomic changes in progression of low-grade gliomas
-
Idbaih, A. et al. 2008. Genomic changes in progression of low-grade gliomas. J. Neurooncol. 90: 133-140.
-
(2008)
J. Neurooncol.
, vol.90
, pp. 133-140
-
-
Idbaih, A.1
-
47
-
-
77951161588
-
Novel PNLIPRP3 and DOCK8 gene expression and prognostic implications of DNA loss on chromosome 10q25.3 in hepatocellular carcinoma
-
Saelee, P. et al. 2009. Novel PNLIPRP3 and DOCK8 gene expression and prognostic implications of DNA loss on chromosome 10q25.3 in hepatocellular carcinoma. Asian Pac. J. Cancer Prev. 10: 501-506.
-
(2009)
Asian Pac. J. Cancer Prev.
, vol.10
, pp. 501-506
-
-
Saelee, P.1
-
48
-
-
74549164334
-
A review on the vascular features of the hyperimmunoglobulin E syndrome
-
Yavuz, H. & R. Chee. 2010. A review on the vascular features of the hyperimmunoglobulin E syndrome. Clin. Exp. Immunol. 159: 238-244.
-
(2010)
Clin. Exp. Immunol.
, vol.159
, pp. 238-244
-
-
Yavuz, H.1
Chee, R.2
-
49
-
-
79961172075
-
Coronary artery abnormalities in hyper-IgE syndrome
-
Freeman, A.F. et al. 2011. Coronary artery abnormalities in hyper-IgE syndrome. J. Clin. Immunol. 31: 338-345.
-
(2011)
J. Clin. Immunol.
, vol.31
, pp. 338-345
-
-
Freeman, A.F.1
-
50
-
-
79953734130
-
Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation
-
Gatz, S.A. et al. 2011. Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. Bone Marrow Transplant 46: 552-556.
-
(2011)
Bone Marrow Transplant
, vol.46
, pp. 552-556
-
-
Gatz, S.A.1
-
51
-
-
78649878923
-
Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency
-
McDonald, D.R. et al. 2010. Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency. J. Allergy Clin. Immunol. 126: 1304-1305.e3.
-
(2010)
J. Allergy Clin. Immunol.
, vol.126
-
-
McDonald, D.R.1
|