-
1
-
-
35348960378
-
STAT3 mutations in the hyper-IgE syndrome
-
1 Holland, S.M., DeLeo, F.R., Elloumi, H.Z., Hsu, A.P., Uzel, G., Brodsky, N., et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med 357 (2007), 1608–1619.
-
(2007)
N Engl J Med
, vol.357
, pp. 1608-1619
-
-
Holland, S.M.1
DeLeo, F.R.2
Elloumi, H.Z.3
Hsu, A.P.4
Uzel, G.5
Brodsky, N.6
-
2
-
-
84901988362
-
Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern
-
2 Boos, A.C., Hagl, B., Schlesinger, A., Halm, B.E., Ballenberger, N., Pinarci, M., et al. Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern. Allergy 69 (2014), 943–953.
-
(2014)
Allergy
, vol.69
, pp. 943-953
-
-
Boos, A.C.1
Hagl, B.2
Schlesinger, A.3
Halm, B.E.4
Ballenberger, N.5
Pinarci, M.6
-
3
-
-
70949098060
-
Combined immunodeficiency associated with DOCK8 mutations
-
3 Zhang, Q., Davis, J.C., Lamborn, I.T., Freeman, A.F., Jing, H., Favreau, A.J., et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 361 (2009), 2046–2055.
-
(2009)
N Engl J Med
, vol.361
, pp. 2046-2055
-
-
Zhang, Q.1
Davis, J.C.2
Lamborn, I.T.3
Freeman, A.F.4
Jing, H.5
Favreau, A.J.6
-
4
-
-
0015981727
-
Raised serum-IgE levels and defective neutrophil chemotaxis in three children with eczema and recurrent bacterial infections
-
4 Hill, H.R., Quie, P.G., Raised serum-IgE levels and defective neutrophil chemotaxis in three children with eczema and recurrent bacterial infections. Lancet 1 (1974), 183–187.
-
(1974)
Lancet
, vol.1
, pp. 183-187
-
-
Hill, H.R.1
Quie, P.G.2
-
5
-
-
84997115802
-
Severe atopy and allergy—rare hyper-IgE syndrome caused by the DOCK8 mutation as underlying condition
-
5 Koskenvuo, M., Kainulainen, L., Vanto, T., Lukkarinen, H., Lahteenmaki, P., Ruuskanen, O., Severe atopy and allergy—rare hyper-IgE syndrome caused by the DOCK8 mutation as underlying condition. Duodecim 131 (2015), 541–544.
-
(2015)
Duodecim
, vol.131
, pp. 541-544
-
-
Koskenvuo, M.1
Kainulainen, L.2
Vanto, T.3
Lukkarinen, H.4
Lahteenmaki, P.5
Ruuskanen, O.6
-
6
-
-
84856022081
-
Cutaneous manifestations of DOCK8 deficiency syndrome
-
6 Chu, E.Y., Freeman, A.F., Jing, H., Cowen, E.W., Davis, J., Su, H.C., et al. Cutaneous manifestations of DOCK8 deficiency syndrome. Arch Dermatol 148 (2012), 79–84.
-
(2012)
Arch Dermatol
, vol.148
, pp. 79-84
-
-
Chu, E.Y.1
Freeman, A.F.2
Jing, H.3
Cowen, E.W.4
Davis, J.5
Su, H.C.6
-
7
-
-
84899618667
-
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
-
9 e1-5
-
7 Zhang, Y., Yu, X., Ichikawa, M., Lyons, J.J., Datta, S., Lamborn, I.T., et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol 133 (2014), 1400–1409 9 e1-5.
-
(2014)
J Allergy Clin Immunol
, vol.133
, pp. 1400-1409
-
-
Zhang, Y.1
Yu, X.2
Ichikawa, M.3
Lyons, J.J.4
Datta, S.5
Lamborn, I.T.6
-
8
-
-
84907336842
-
DOCK8 regulates protective immunity by controlling the function and survival of RORgammat+ ILCs
-
8 Singh, A.K., Eken, A., Fry, M., Bettelli, E., Oukka, M., DOCK8 regulates protective immunity by controlling the function and survival of RORgammat+ ILCs. Nat Commun, 5, 2014, 4603.
-
(2014)
Nat Commun
, vol.5
, pp. 4603
-
-
Singh, A.K.1
Eken, A.2
Fry, M.3
Bettelli, E.4
Oukka, M.5
-
9
-
-
84925543370
-
DOCK8 deficiency: clinical and immunological phenotype and treatment options—a review of 136 patients
-
9 Aydin, S.E., Kilic, S.S., Aytekin, C., Kumar, A., Porras, O., Kainulainen, L., et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options—a review of 136 patients. J Clin Immunol 35 (2015), 189–198.
-
(2015)
J Clin Immunol
, vol.35
, pp. 189-198
-
-
Aydin, S.E.1
Kilic, S.S.2
Aytekin, C.3
Kumar, A.4
Porras, O.5
Kainulainen, L.6
-
10
-
-
84924283592
-
DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity
-
10 Zhang, Q., Dove, C.G., Hor, J.L., Murdock, H.M., Strauss-Albee, D.M., Garcia, J.A., et al. DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity. J Exp Med 211 (2014), 2549–2566.
-
(2014)
J Exp Med
, vol.211
, pp. 2549-2566
-
-
Zhang, Q.1
Dove, C.G.2
Hor, J.L.3
Murdock, H.M.4
Strauss-Albee, D.M.5
Garcia, J.A.6
-
11
-
-
84908440532
-
Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells
-
11 Janssen, E., Morbach, H., Ullas, S., Bannock, J.M., Massad, C., Menard, L., et al. Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells. J Allergy Clin Immunol 134 (2014), 1365–1374.
-
(2014)
J Allergy Clin Immunol
, vol.134
, pp. 1365-1374
-
-
Janssen, E.1
Morbach, H.2
Ullas, S.3
Bannock, J.M.4
Massad, C.5
Menard, L.6
-
12
-
-
84924308188
-
Coincidental loss of DOCK8 function in NLRP10-deficient and C3H/HeJ mice results in defective dendritic cell migration
-
12 Krishnaswamy, J.K., Singh, A., Gowthaman, U., Wu, R., Gorrepati, P., Sales Nascimento, M., et al. Coincidental loss of DOCK8 function in NLRP10-deficient and C3H/HeJ mice results in defective dendritic cell migration. Proc Natl Acad Sci USA 112 (2015), 3056–3061.
-
(2015)
Proc Natl Acad Sci USA
, vol.112
, pp. 3056-3061
-
-
Krishnaswamy, J.K.1
Singh, A.2
Gowthaman, U.3
Wu, R.4
Gorrepati, P.5
Sales Nascimento, M.6
-
13
-
-
84861078339
-
DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses
-
13 Harada, Y., Tanaka, Y., Terasawa, M., Pieczyk, M., Habiro, K., Katakai, T., et al. DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses. Blood 119 (2012), 4451–4461.
-
(2012)
Blood
, vol.119
, pp. 4451-4461
-
-
Harada, Y.1
Tanaka, Y.2
Terasawa, M.3
Pieczyk, M.4
Habiro, K.5
Katakai, T.6
-
14
-
-
84938738886
-
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
-
14 Engelhardt, K.R., Gertz, M.E., Keles, S., Schaffer, A.A., Sigmund, E.C., Glocker, C., et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 136 (2015), 402–412.
-
(2015)
J Allergy Clin Immunol
, vol.136
, pp. 402-412
-
-
Engelhardt, K.R.1
Gertz, M.E.2
Keles, S.3
Schaffer, A.A.4
Sigmund, E.C.5
Glocker, C.6
-
15
-
-
84892474895
-
Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis
-
15 Janssen, E., Tsitsikov, E., Al-Herz, W., Lefranc, G., Megarbane, A., Dasouki, M., et al. Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis. Clin Immunol 150 (2014), 220–224.
-
(2014)
Clin Immunol
, vol.150
, pp. 220-224
-
-
Janssen, E.1
Tsitsikov, E.2
Al-Herz, W.3
Lefranc, G.4
Megarbane, A.5
Dasouki, M.6
-
16
-
-
84866945470
-
Clinical and immunological correction of DOCK8 deficiency by allogeneic hematopoietic stem cell transplantation following a reduced toxicity conditioning regimen
-
16 Boztug, H., Karitnig-Weiss, C., Ausserer, B., Renner, E.D., Albert, M.H., Sawalle-Belohradsky, J., et al. Clinical and immunological correction of DOCK8 deficiency by allogeneic hematopoietic stem cell transplantation following a reduced toxicity conditioning regimen. Pediatr Hematol Oncol 29 (2012), 585–594.
-
(2012)
Pediatr Hematol Oncol
, vol.29
, pp. 585-594
-
-
Boztug, H.1
Karitnig-Weiss, C.2
Ausserer, B.3
Renner, E.D.4
Albert, M.H.5
Sawalle-Belohradsky, J.6
-
17
-
-
84901807538
-
Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-alpha 2b therapy
-
e3
-
17 Keles, S., Jabara, H.H., Reisli, I., McDonald, D.R., Barlan, I., Hanna-Wakim, R., et al. Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-alpha 2b therapy. J Allergy Clin Immunol 133 (2014), 1753–1755 e3.
-
(2014)
J Allergy Clin Immunol
, vol.133
, pp. 1753-1755
-
-
Keles, S.1
Jabara, H.H.2
Reisli, I.3
McDonald, D.R.4
Barlan, I.5
Hanna-Wakim, R.6
-
18
-
-
84937680652
-
Matched related and unrelated donor hematopoietic stem cell transplantation for DOCK8 deficiency
-
18 Cuellar-Rodriguez, J., Freeman, A.F., Grossman, J., Su, H., Parta, M., Murdock, H., et al. Matched related and unrelated donor hematopoietic stem cell transplantation for DOCK8 deficiency. Biol Blood Marrow Transplant 21 (2015), 1037–1045.
-
(2015)
Biol Blood Marrow Transplant
, vol.21
, pp. 1037-1045
-
-
Cuellar-Rodriguez, J.1
Freeman, A.F.2
Grossman, J.3
Su, H.4
Parta, M.5
Murdock, H.6
|