-
1
-
-
84857728047
-
Primary immunodeficiency diseases: An update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
-
10.3389/fimmu.2011.00054
-
Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Front Immunol. 2011;2:1-26.
-
(2011)
Front Immunol
, vol.2
, pp. 1-26
-
-
Al-Herz, W.1
Bousfiha, A.2
Casanova, J.L.3
Chapel, H.4
Conley, M.E.5
Cunningham-Rundles, C.6
-
2
-
-
79961154447
-
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
-
21727188 10.1084/jem.20110958 1:CAS:528:DC%2BC3MXhtVSit73F
-
Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med. 2011;208:1635-48.
-
(2011)
J Exp Med
, vol.208
, pp. 1635-1648
-
-
Liu, L.1
Okada, S.2
Kong, X.F.3
Kreins, A.Y.4
Cypowyj, S.5
Abhyankar, A.6
-
3
-
-
84856507318
-
Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects
-
22284928 10.1016/j.jaci.2011.12.966 1:CAS:528:DC%2BC38XhsVOkur0%3D
-
Engelhardt K, Grimbacher B. Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects. J Allergy Clin Immunol. 2012;129:294-305.
-
(2012)
J Allergy Clin Immunol
, vol.129
, pp. 294-305
-
-
Engelhardt, K.1
Grimbacher, B.2
-
4
-
-
84871321329
-
Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis
-
23026768 10.1097/ACI.0b013e328358cc0b 1:CAS:528:DC%2BC38XhsFOlsbfE
-
Puel A, Cypowyj S, Maródi L, Abel L, Picard C, Casanova JL. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol. 2012;12:616-22.
-
(2012)
Curr Opin Allergy Clin Immunol
, vol.12
, pp. 616-622
-
-
Puel, A.1
Cypowyj, S.2
Maródi, L.3
Abel, L.4
Picard, C.5
Casanova, J.L.6
-
5
-
-
79960094057
-
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis
-
21714643 10.1056/NEJMoa1100102
-
van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LA, Gilissen C, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med. 2011;365:54-61.
-
(2011)
N Engl J Med
, vol.365
, pp. 54-61
-
-
Van De Veerdonk, F.L.1
Plantinga, T.S.2
Hoischen, A.3
Smeekens, S.P.4
Joosten, L.A.5
Gilissen, C.6
-
6
-
-
84878230196
-
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism
-
22847544 10.1007/s10875-012-9744-6 1:CAS:528:DC%2BC38XhvFSnsLzM
-
Hori T, Ohnishi H, Teramoto T, Tsubouchi K, Naiki T, Hirose Y, et al. Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. J Clin Immunol. 2012;32:1213-20.
-
(2012)
J Clin Immunol
, vol.32
, pp. 1213-1220
-
-
Hori, T.1
Ohnishi, H.2
Teramoto, T.3
Tsubouchi, K.4
Naiki, T.5
Hirose, Y.6
-
7
-
-
79953284685
-
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity
-
21350122 10.1126/science.1200439 1:CAS:528:DC%2BC3MXjvVyisbg%3D
-
Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 2011;332:65-8.
-
(2011)
Science
, vol.332
, pp. 65-68
-
-
Puel, A.1
Cypowyj, S.2
Bustamante, J.3
Wright, J.F.4
Liu, L.5
Lim, H.K.6
-
8
-
-
84865308028
-
Inborn errors of human STAT1: Allelic heterogeneity governs the diversity of immunological and infectious phenotypes
-
22651901 10.1016/j.coi.2012.04.011 1:CAS:528:DC%2BC38XnslKqtrw%3D
-
Boisson-Dupuis S, Kong XF, Okada S, Cypowyj S, Puel A, Abel L, et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol. 2012;24:364-78.
-
(2012)
Curr Opin Immunol
, vol.24
, pp. 364-378
-
-
Boisson-Dupuis, S.1
Kong, X.F.2
Okada, S.3
Cypowyj, S.4
Puel, A.5
Abel, L.6
-
9
-
-
0029828826
-
Successful allogeneic bone marrow transplantation in severe chronic mucocutaneous candidiasis syndrome
-
8899198 1:STN:280:DyaK2s%2FlsV2juw%3D%3D
-
Hoh MC, Lin HP, Chan LL, Lam SK. Successful allogeneic bone marrow transplantation in severe chronic mucocutaneous candidiasis syndrome. Bone Marrow Transplant. 1996;18:797-800.
-
(1996)
Bone Marrow Transplant
, vol.18
, pp. 797-800
-
-
Hoh, M.C.1
Lin, H.P.2
Chan, L.L.3
Lam, S.K.4
-
10
-
-
0022508294
-
Severe aplastic anemia associated with chronic mucocutaneous candidiasis. Immunologic and hematologic reconstitution after allogeneic bone marrow transplantation
-
3518164 10.1097/00007890-198605000-00006 1:STN:280:DyaL283gvFCjug%3D%3D
-
Deeg HJ, Lum LG, Sanders J, Levy GJ, Sullivan KM, Beatty P, et al. Severe aplastic anemia associated with chronic mucocutaneous candidiasis. Immunologic and hematologic reconstitution after allogeneic bone marrow transplantation. Transplantation. 1986;41:583-6.
-
(1986)
Transplantation
, vol.41
, pp. 583-586
-
-
Deeg, H.J.1
Lum, L.G.2
Sanders, J.3
Levy, G.J.4
Sullivan, K.M.5
Beatty, P.6
-
11
-
-
84879421310
-
Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of toll-like receptor 3
-
10.1016/j.jpeds.2013.02.040 23541088
-
Al Rushood M, McCusker C, Mazer B, Alizadehfar R, Grimbacher B, Depner M, et al. Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of toll-like receptor 3. J Pediatr. 2013. doi: 10.1016/j.jpeds.2013.02.040.
-
(2013)
J Pediatr
-
-
Al Rushood, M.1
McCusker, C.2
Mazer, B.3
Alizadehfar, R.4
Grimbacher, B.5
Depner, M.6
-
12
-
-
84878230196
-
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism
-
10.1007/s10875-012-9744-6 22847544 10.1007/s10875-012-9744-6 1:CAS:528:DC%2BC38XhvFSnsLzM
-
Hori T, Ohnishi H, Teramoto T, Tsubouchi K, Naiki T, Hirose Y, et al. Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. J Clin Immunol. 2012;32(6):1213-20. doi: 10.1007/s10875-012-9744-6.
-
(2012)
J Clin Immunol
, vol.32
, Issue.6
, pp. 1213-1220
-
-
Hori, T.1
Ohnishi, H.2
Teramoto, T.3
Tsubouchi, K.4
Naiki, T.5
Hirose, Y.6
-
13
-
-
84878592257
-
Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival
-
10.1016/j.jaci.2013.01.004 23403048
-
Romberg N, Morbach H, Lawrence MG, Kim S, Kang I, Holland SM, et al. Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival. J Allergy Clin Immunol. 2013. doi: 10.1016/j.jaci.2013.01.004.
-
(2013)
J Allergy Clin Immunol
-
-
Romberg, N.1
Morbach, H.2
Lawrence, M.G.3
Kim, S.4
Kang, I.5
Holland, S.M.6
-
14
-
-
84878568160
-
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis
-
10.1016/j.jaci.2013.01.052
-
Sampaio EP, Hsu AP, Pechacek J, Bax HI, Dias DL, Paulson ML, et al. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. J Allergy Clin Immunol. 2013. doi: 10.1016/j.jaci.2013.01.052.
-
(2013)
J Allergy Clin Immunol
-
-
Sampaio, E.P.1
Hsu, A.P.2
Pechacek, J.3
Bax, H.I.4
Dias, D.L.5
Paulson, M.L.6
-
15
-
-
83355168761
-
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis
-
10.1371/journal.pone.0029248 22195034 10.1371/journal.pone.0029248 1:CAS:528:DC%2BC38XjtFOqsA%3D%3D
-
Smeekens SP, Plantinga TS, van de Veerdonk FL, Heinhuis B, Hoischen A, Joosten LA, et al. STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. PLoS One. 2011;6(12):e29248. doi: 10.1371/journal.pone.0029248.
-
(2011)
PLoS One
, vol.6
, Issue.12
, pp. 29248
-
-
Smeekens, S.P.1
Plantinga, T.S.2
Van De Veerdonk, F.L.3
Heinhuis, B.4
Hoischen, A.5
Joosten, L.A.6
-
16
-
-
84864126962
-
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain
-
22730530 10.4049/jimmunol.1200926 1:CAS:528:DC%2BC38XhtVKltbfN
-
Takezaki S, Yamada M, Kato M, Park MJ, Maruyama K, Yamazaki Y, et al. Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. J Immunol. 2012;189:1521-6.
-
(2012)
J Immunol
, vol.189
, pp. 1521-1526
-
-
Takezaki, S.1
Yamada, M.2
Kato, M.3
Park, M.J.4
Maruyama, K.5
Yamazaki, Y.6
-
17
-
-
84862888780
-
Herpes in STAT1 gain-of-function mutation
-
22748593 10.1016/S0140-6736(12)60365-1
-
Tóth B, Méhes L, Taskó S, Szalai Z, Tulassay Z, Cypowyj S, et al. Herpes in STAT1 gain-of-function mutation. Lancet. 2012;379:2500.
-
(2012)
Lancet
, vol.379
, pp. 2500
-
-
Tóth, B.1
Méhes, L.2
Taskó, S.3
Szalai, Z.4
Tulassay, Z.5
Cypowyj, S.6
-
18
-
-
84878556463
-
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome
-
10.1016/j.jaci.2012.11.054
-
Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, et al. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol. 2013. doi: 10.1016/j.jaci.2012.11.054.
-
(2013)
J Allergy Clin Immunol
-
-
Uzel, G.1
Sampaio, E.P.2
Lawrence, M.G.3
Hsu, A.P.4
Hackett, M.5
Dorsey, M.J.6
-
19
-
-
84875718177
-
Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis
-
23245795 10.1016/j.jaci.2012.11.005 1:CAS:528:DC%2BC38XhvVCrsb%2FM
-
Wang X, Lin Z, Gao L, Wang A, Wan Z, Chen W, et al. Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis. J Allergy Clin Immunol. 2013;131:1242-3.
-
(2013)
J Allergy Clin Immunol
, vol.131
, pp. 1242-1243
-
-
Wang, X.1
Lin, Z.2
Gao, L.3
Wang, A.4
Wan, Z.5
Chen, W.6
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