-
1
-
-
22944461763
-
Inborn errors of immunity to infection: The rule rather than the exception
-
16027233 10.1084/jem.20050854 1:CAS:528:DC%2BD2MXmsVKhtrY%3D
-
Casanova J-L, Abel L. Inborn errors of immunity to infection: the rule rather than the exception. J Exp Med. 2005;202:197-201.
-
(2005)
J Exp Med
, vol.202
, pp. 197-201
-
-
Casanova, J.-L.1
Abel, L.2
-
2
-
-
37149022518
-
Human primary immunodeficiency diseases
-
18093537 10.1016/j.immuni.2007.11.012 1:CAS:528:DC%2BD1cXotFWk A comprehensive review on novel primary immunodeficiencies
-
• Fischer A. Human primary immunodeficiency diseases. Immunity 2007;27:835-45. A comprehensive review on novel primary immunodeficiencies.
-
(2007)
Immunity
, vol.27
, pp. 835-845
-
-
Fischer, A.1
-
3
-
-
34547732069
-
Primary immunodeficiencies: A field in its infancy
-
17673650 10.1126/science.1142963 1:CAS:528:DC%2BD2sXptVChsL8%3D A clear and concised summary of the concept of primary immunodeficiencies as an emerging field of immunology and medicine
-
• Casanova J-L, Abel L. Primary immunodeficiencies: a field in its infancy. Science 2007;317:617-9. A clear and concised summary of the concept of primary immunodeficiencies as an emerging field of immunology and medicine.
-
(2007)
Science
, vol.317
, pp. 617-619
-
-
Casanova, J.-L.1
Abel, L.2
-
4
-
-
35548965046
-
Immunological and genetic bases of new primary immunodeficiencies
-
17960151 10.1038/nri2195 A comprehensive review on several novel primary immunodeficiencies
-
• Maródi L, Notarangelo LD. Immunological and genetic bases of new primary immunodeficiencies. Nat Rev Immunol 2007;7:851-61. A comprehensive review on several novel primary immunodeficiencies.
-
(2007)
Nat Rev Immunol
, vol.7
, pp. 851-861
-
-
Maródi, L.1
Notarangelo, L.D.2
-
5
-
-
76749147849
-
Primary immunodeficiencies
-
20042228 10.1016/j.jaci.2009.07.053
-
Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010;125(2):S182-94.
-
(2010)
J Allergy Clin Immunol
, vol.125
, Issue.2
, pp. 182-194
-
-
Notarangelo, L.D.1
-
6
-
-
70949098060
-
Combined immunodeficiency associated with DOCK8mutations
-
10.1056/NEJMoa0905506
-
Zhang Q, Davis JC, Lamborn IT, et al. Combined immunodeficiency associated with DOCK8mutations. N Engl J Med. 2009;36:2046-55.
-
(2009)
N Engl J Med
, vol.36
, pp. 2046-2055
-
-
Zhang, Q.1
Davis, J.C.2
Lamborn, I.T.3
-
7
-
-
84865793094
-
Immunity to infection in IL-17-deficient mice and humans
-
22949323 10.1002/eji.201242605 1:CAS:528:DC%2BC38Xht12iu7vE
-
Cypowyj S, Picard C, Maródi L, et al. Immunity to infection in IL-17-deficient mice and humans. Eur J Immunol. 2012;42(9):2246-54.
-
(2012)
Eur J Immunol
, vol.42
, Issue.9
, pp. 2246-2254
-
-
Cypowyj, S.1
Picard, C.2
Maródi, L.3
-
8
-
-
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, et al. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol. 2012;12(6):616-22.
-
(2012)
Curr Opin Allergy Clin Immunol.
, vol.12
, Issue.6
, pp. 616-622
-
-
Puel, A.1
Cypowyj, S.2
Maródi, L.3
-
9
-
-
84869141616
-
Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species
-
A comprehensive review on the molecular basis of susceptibility to Candida and Staphylococci in humans
-
• Maródi L, Cypowyj S, Tóth B, et al. Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species. J Allergy Clin Immunol. 2012;130(5):1019-27. A comprehensive review on the molecular basis of susceptibility to Candida and Staphylococci in humans.
-
(2012)
J Allergy Clin Immunol
, vol.130
, Issue.5
, pp. 1019-1027
-
-
Maródi L, C.1
-
10
-
-
34247555353
-
Differentiation and function of Th17 T cells
-
17433650 10.1016/j.coi.2007.04.005 1:CAS:528:DC%2BD2sXlt1agsLg%3D
-
Stockinger B, Veldhoen M. Differentiation and function of Th17 T cells. Curr Opin Immunol. 2007;19(3):281-6.
-
(2007)
Curr Opin Immunol
, vol.19
, Issue.3
, pp. 281-286
-
-
Stockinger, B.1
Veldhoen, M.2
-
11
-
-
39549091298
-
Signal transduction pathways and transcriptional regulation in the control of Th17 differentiation
-
1:CAS:528:DC%2BD1cXisVSrsb4%3D
-
Chen Z, Laurence A, O'Shea JJ. Signal transduction pathways and transcriptional regulation in the control of Th17 differentiation. Cytokine Growth Factor Rev. 2007;19(6):400-8.
-
(2007)
Cytokine Growth Factor Rev.
, vol.19
, Issue.6
, pp. 400-408
-
-
Chen, Z.1
Laurence, A.2
O'Shea, J.J.3
-
12
-
-
41549134361
-
Th17 cell differentiation: The long and winding road
-
18400187 10.1016/j.immuni.2008.03.001 1:CAS:528:DC%2BD1cXkvV2itrk%3D
-
McGeachy MJ, Cua DJ. Th17 cell differentiation: the long and winding road. Immunity. 2008;28(4):445-53.
-
(2008)
Immunity
, vol.28
, Issue.4
, pp. 445-453
-
-
McGeachy, M.J.1
Cua, D.J.2
-
13
-
-
70349448417
-
Thymic self-reactivity selects natural interleukin 17-producing T cells that can regulate peripheral inflammation
-
19734905 10.1038/ni.1783 1:CAS:528:DC%2BD1MXhtV2gsbrF
-
Marks BR, Nowyhed HN, Choi JY, et al. Thymic self-reactivity selects natural interleukin 17-producing T cells that can regulate peripheral inflammation. Nat Immunol. 2009;10(10):1125-32.
-
(2009)
Nat Immunol
, vol.10
, Issue.10
, pp. 1125-1132
-
-
Marks, B.R.1
Nowyhed, H.N.2
Choi, J.Y.3
-
14
-
-
65349172388
-
Transcriptional regulatory networks in Th17 cell differentiation
-
19328669 10.1016/j.coi.2009.03.001
-
Zhou L, Littman DR. Transcriptional regulatory networks in Th17 cell differentiation. Curr Opin Immunol. 2009;21(2):146-52.
-
(2009)
Curr Opin Immunol
, vol.21
, Issue.2
, pp. 146-152
-
-
Zhou, L.1
Littman, D.R.2
-
15
-
-
78649689761
-
Signal transduction pathways and transcriptional regulation in Th17 cell differentiation
-
21084214 10.1016/j.cytogfr.2010.10.006 1:CAS:528:DC%2BC3cXhsFant7rJ
-
Hirahara K, Ghoreschi K, Laurence A, et al. Signal transduction pathways and transcriptional regulation in Th17 cell differentiation. Cytokine Growth Factor Rev. 2010;21(6):425-34.
-
(2010)
Cytokine Growth Factor Rev.
, vol.21
, Issue.6
, pp. 425-434
-
-
Hirahara, K.1
Ghoreschi, K.2
Laurence, A.3
-
16
-
-
80051964036
-
IL-17R signaling: New players get in on the Act1
-
21852777 10.1038/ni.2093 1:CAS:528:DC%2BC3MXhtVKksbjE
-
May MJ. IL-17R signaling: new players get in on the Act1. Nat Immunol. 2011;12(9):813-5.
-
(2011)
Nat Immunol
, vol.12
, Issue.9
, pp. 813-815
-
-
May, M.J.1
-
18
-
-
77953646926
-
Cytokine requirements for the differentiation and expansion of IL-17A- and IL-22-producing human Vgamma2Vdelta2 T cells
-
20483730 10.4049/jimmunol.1000600 1:CAS:528:DC%2BC3cXmvFejt7s%3D
-
Ness-Schwickerath KJ, Jin C, Morita CT. Cytokine requirements for the differentiation and expansion of IL-17A- and IL-22-producing human Vgamma2Vdelta2 T cells. J Immunol. 2010;184(12):7268-80.
-
(2010)
J Immunol
, vol.184
, Issue.12
, pp. 7268-7280
-
-
Ness-Schwickerath, K.J.1
Jin, C.2
Morita, C.T.3
-
19
-
-
77954143695
-
Innate IL-17-producing cells: The sentinels of the immune system
-
20559326 10.1038/nri2800 1:CAS:528:DC%2BC3cXnsFKjtr0%3D
-
Cua DJ, Tato CM. Innate IL-17-producing cells: the sentinels of the immune system. Nat Rev Immunol. 2010;10(7):479-89.
-
(2010)
Nat Rev Immunol
, vol.10
, Issue.7
, pp. 479-489
-
-
Cua, D.J.1
Tato, C.M.2
-
20
-
-
80053600391
-
Recent advances in the IL-17 cytokine family
-
21852080 10.1016/j.coi.2011.07.006 1:CAS:528:DC%2BC3MXht12ru7fI
-
Gaffen SL. Recent advances in the IL-17 cytokine family. Curr Opin Immunol. 2011;23(5):613-9.
-
(2011)
Curr Opin Immunol
, vol.23
, Issue.5
, pp. 613-619
-
-
Gaffen, S.L.1
-
21
-
-
84865411904
-
C-type lectin receptors orchestrate antifungal immunity
-
22910394 10.1038/ni.2369 1:CAS:528:DC%2BC38Xht1aksLfP
-
Hardison SE, Brown GD. C-type lectin receptors orchestrate antifungal immunity. Nat Immunol. 2012;13(9):817-22.
-
(2012)
Nat Immunol
, vol.13
, Issue.9
, pp. 817-822
-
-
Hardison, S.E.1
Brown, G.D.2
-
22
-
-
77953215487
-
Epidemiology and outcome of invasive fungal infections in solid organ transplant recipients
-
20113459 10.1111/j.1399-3062.2010.00492.x 1:STN:280: DC%2BC3cnmsVaisQ%3D%3D
-
Neofytos D, Fishman JA, Horn D, Anaissie E, Chang CH, Olyaei A, et al. Epidemiology and outcome of invasive fungal infections in solid organ transplant recipients. Transpl Infect Dis. 2010;12:220-9.
-
(2010)
Transpl Infect Dis
, vol.12
, pp. 220-229
-
-
Neofytos, D.1
Fishman, J.A.2
Horn, D.3
Anaissie, E.4
Chang, C.H.5
Olyaei, A.6
-
23
-
-
74949107171
-
Epidemiology of invasive mycoses in North America
-
20088682 10.3109/10408410903241444
-
Pfaller MA, Diekema DJ. Epidemiology of invasive mycoses in North America. Crit Rev Microbiol. 2010;36:1-53.
-
(2010)
Crit Rev Microbiol
, vol.36
, pp. 1-53
-
-
Pfaller, M.A.1
Diekema, D.J.2
-
24
-
-
0343580518
-
Local and systemic host defense mechanisms against Candida: Immunopathology of candidal infections
-
9271043 10.1097/00006454-199708000-00012
-
Maródi L. Local and systemic host defense mechanisms against Candida: immunopathology of candidal infections. Pediatr Infect Dis J. 1997;16:795-801.
-
(1997)
Pediatr Infect Dis J
, vol.16
, pp. 795-801
-
-
Maródi, L.1
-
25
-
-
36348939260
-
Invasive Candida species disease in infants and children: Occurrence, risk factors, management, and innate host defense mechanisms
-
18025938 10.1097/MOP.0b013e3282f1dde9
-
Maródi L, Johnston Jr RB. Invasive Candida species disease in infants and children: occurrence, risk factors, management, and innate host defense mechanisms. Curr Opin Pediatr. 2007;19:693-7.
-
(2007)
Curr Opin Pediatr
, vol.19
, pp. 693-697
-
-
Maródi, L.1
Johnston, Jr.R.B.2
-
26
-
-
0021723810
-
Characteristics and functional capacities of human cord blood granulocytes and monocytes
-
6240017 10.1203/00006450-198411000-00014
-
Maródi L, Leijh PC, van Furth R. Characteristics and functional capacities of human cord blood granulocytes and monocytes. Pediatr Res. 1984;18:1127-31.
-
(1984)
Pediatr Res
, vol.18
, pp. 1127-1131
-
-
Maródi, L.1
Leijh, P.C.2
Van Furth, R.3
-
27
-
-
64249161198
-
Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type i
-
19382991 10.1111/j.1365-2796.2009.02090.x 1:CAS:528:DC%2BD1MXlvFOit70%3D
-
Husebye ES, Perheentupa J, Rautemaa R, Kampe O. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. J Intern Med. 2009;265:514-29.
-
(2009)
J Intern Med
, vol.265
, pp. 514-529
-
-
Husebye, E.S.1
Perheentupa, J.2
Rautemaa, R.3
Kampe, O.4
-
28
-
-
84866534568
-
Management of squamous cell cancer of the oesophagus in a patient with a polyglandularendocrinopathy (APECED) and achalasia
-
10.1007/s11605-012-1879-5
-
Mc Cormack O, Timlin M, McGowan A, Healy ML, Ravi N, Reynolds JV. Management of squamous cell cancer of the oesophagus in a patient with a polyglandularendocrinopathy (APECED) and achalasia. J Gastro Intest Surg. 2012;16(10):1963-6.
-
(2012)
J Gastro Intest Surg
, vol.16
, Issue.10
, pp. 1963-1966
-
-
Mc Cormack, O.1
Timlin, M.2
McGowan, A.3
Healy, M.L.4
Ravi, N.5
Reynolds, J.V.6
-
29
-
-
77950593494
-
Oral mucous squamous cell carcinoma-an anticipated consequence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
-
20304522 10.1016/j.jaad.2009.06.061
-
Böckle BC, Wilhelm M, Müller H, Götsch C, Sepp NT. Oral mucous squamous cell carcinoma-an anticipated consequence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). J Am Acad Dermatol. 2010;62(5):864-8.
-
(2010)
J Am Acad Dermatol
, vol.62
, Issue.5
, pp. 864-868
-
-
Böckle, B.C.1
Wilhelm, M.2
Müller, H.3
Götsch, C.4
Sepp, N.T.5
-
30
-
-
77149124612
-
Autoantibodies against IL-17A, IL-17 F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type i
-
20123958 10.1084/jem.20091983 1:CAS:528:DC%2BC3cXitFGqtbY%3D Refs 30 and 31 are companion papers describing the presence of autoantibobies against IL-17A, IL-17 F and IL-22 inpatients with APECED suggesting a specific role of these cytokines in the susceptipility of patients to Candida
-
• Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, et al. Autoantibodies against IL-17A, IL-17 F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med 2010;207:291-7. Refs 30 and 31 are companion papers describing the presence of autoantibobies against IL-17A, IL-17 F and IL-22 inpatients with APECED suggesting a specific role of these cytokines in the susceptipility of patients to Candida.
-
(2010)
J Exp Med
, vol.207
, pp. 291-297
-
-
Puel, A.1
Döffinger, R.2
Natividad, A.3
Chrabieh, M.4
Barcenas-Morales, G.5
Picard, C.6
-
31
-
-
77149147477
-
Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines
-
20123959 10.1084/jem.20091669 1:CAS:528:DC%2BC3cXitFGqtbc%3D Refs 30 and 31 are companion papers describing the presence of autoantibobies against IL-17A, IL-17 F and IL-22 inpatients with APECED suggesting a specific role of these cytokines in the susceptipility of patients to Candida
-
• Kisand K, Bøe Wolff AS, Podkrajsek KT, Tserel L, Link M, Kisand KV, et al. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med 2010;207:299-308. Refs 30 and 31 are companion papers describing the presence of autoantibobies against IL-17A, IL-17 F and IL-22 inpatients with APECED suggesting a specific role of these cytokines in the susceptipility of patients to Candida.
-
(2010)
J Exp Med
, vol.207
, pp. 299-308
-
-
Kisand, K.1
Wolff, A.S.2
Podkrajsek, K.T.3
Tserel, L.4
Link, M.5
Kisand, K.V.6
-
32
-
-
79957573654
-
Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: Clinical and pathogenetic implications
-
21574164 10.1002/eji.201041253 1:CAS:528:DC%2BC3MXmsFGisrY%3D
-
Kisand K, Lilic D, Casanova JL, Peterson P, Meager A, Willcox N. Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications. Eur J Immunol. 2011;41:1517-27.
-
(2011)
Eur J Immunol
, vol.41
, pp. 1517-1527
-
-
Kisand, K.1
Lilic, D.2
Casanova, J.L.3
Peterson, P.4
Meager, A.5
Willcox, N.6
-
33
-
-
77950253546
-
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy
-
10.1111/j.1365-2265.2009.03740.x
-
Tóth B, Wolff AS, Halász Z, Tar A, Szüts P, Ilyés I, et al. Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy. Clin Endocrinol (Oxf). 2010;72:641-7.
-
(2010)
Clin Endocrinol (Oxf)
, vol.72
, pp. 641-647
-
-
Tóth, B.1
Wolff, A.S.2
Halász, Z.3
Tar, A.4
Szüts, P.5
Ilyés, I.6
-
35
-
-
84859950150
-
Inborn errors of human JAKs and STATs
-
A comprehensive review on various mutations of JAKs and STATs causing various clinical phenotypes
-
• Casanova J-L, Holland SM, Notarangelo LD. Inborn errors of human JAKs and STATs. Immunity 2012;36:515-28. A comprehensive review on various mutations of JAKs and STATs causing various clinical phenotypes.
-
(2012)
Immunity
, vol.36
, pp. 515-528
-
-
Casanova, J.-L.1
Holland, S.M.2
Notarangelo, L.D.3
-
36
-
-
84865308028
-
Inborn errors of human STAT1: Allelic heterogeneity governs the diversity of immunological and infectious phenotypes
-
10.1016/j.coi.2012.04.011 This is a comprehensive description of disease-causing mutations in STAT1
-
• 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;(4):364-78. This is a comprehensive description of disease-causing mutations in STAT1.
-
(2012)
Curr Opin Immunol
, vol.4
, pp. 364-378
-
-
Boisson-Dupuis, S.1
Kong, X.F.2
Okada, S.3
Cypowyj, S.4
Puel, A.5
Abel, L.6
-
37
-
-
34548317417
-
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
-
17676033 10.1038/nature06096 1:CAS:528:DC%2BD2sXps12nsLc%3D Refs. 37 and 38 are companion papers describing the genetic etiology of autosomal dominant and sporadic hyper-IgE syndrome
-
• Minegishi Y, Saito M, Tsuchiya A, Tsuge I, Takada H, Hara T, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007;448:1058-62. Refs. 37 and 38 are companion papers describing the genetic etiology of autosomal dominant and sporadic hyper-IgE syndrome.
-
(2007)
Nature
, vol.448
, pp. 1058-1062
-
-
Minegishi, Y.1
Saito, M.2
Tsuchiya, A.3
Tsuge, I.4
Takada, H.5
Hara, T.6
-
38
-
-
35348960378
-
STAT3 mutations in the hyper-IgE syndrome
-
17881745 10.1056/NEJMoa073687 1:CAS:528:DC%2BD2sXht1SgurzL Refs. 37 and 38 are companion papers describing the genetic etiology of autosomal dominant and sporadic hyper-IgE syndrome
-
• Holland SM, De Leo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med 2007;357:1608-19. Refs. 37 and 38 are companion papers describing the genetic etiology of autosomal dominant and sporadic hyper-IgE syndrome.
-
(2007)
N Engl J Med
, vol.357
, pp. 1608-1619
-
-
Holland, S.M.1
De Leo, F.R.2
Elloumi, H.Z.3
Hsu, A.P.4
Uzel, G.5
Brodsky, N.6
-
39
-
-
46949089128
-
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3
-
18591410 10.1084/jem.20080218 1:CAS:528:DC%2BD1cXosVKkt78%3D
-
Ma CS, Chew GY, Simpson N, Priyadarshi A, Wong M, Grimbacher B, et al. Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J Exp Med. 2008;205:1551-7.
-
(2008)
J Exp Med
, vol.205
, pp. 1551-1557
-
-
Ma, C.S.1
Chew, G.Y.2
Simpson, N.3
Priyadarshi, A.4
Wong, M.5
Grimbacher, B.6
-
41
-
-
52949142293
-
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups
-
18706697 10.1016/j.molimm.2008.07.001 1:CAS:528:DC%2BD1cXhtFOisrjN
-
Jiao H, Tóth B, Erdos M, Fransson I, Rákóczi E, Balogh I, et al. Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. Mol Immunol. 2008;46:202-6.
-
(2008)
Mol Immunol
, vol.46
, pp. 202-206
-
-
Jiao, H.1
Tóth, B.2
Erdos, M.3
Fransson, I.4
Rákóczi, E.5
Balogh, I.6
-
42
-
-
46949086109
-
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells
-
18591412 10.1084/jem.20080321
-
de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, et al. Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med. 2008;205:1543-50.
-
(2008)
J Exp Med
, vol.205
, pp. 1543-1550
-
-
De Beaucoudrey, L.1
Puel, A.2
Filipe-Santos, O.3
Cobat, A.4
Ghandil, P.5
Chrabieh, M.6
-
43
-
-
67449149963
-
Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome
-
+ CD4 T cell depletion in patients with autosomal dominant and sporadic hyper-IgE syndrome
-
+ CD4 T cell depletion in patients with autosomal dominant and sporadic hyper-IgE syndrome.
-
(2009)
J Exp Med
, vol.206
, pp. 1291-1301
-
-
Minegishi, Y.1
Saito, M.2
Nagasawa, M.3
Takada, H.4
Hara, T.5
Tsuchiya, S.6
-
44
-
-
84863722197
-
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: Molecular, cellular, and clinical features from a French national survey
-
10.1097/MD.0b013e31825f95b9
-
Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L, et al. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine. 2012;91(4):1-19.
-
(2012)
Medicine
, vol.91
, Issue.4
, pp. 1-19
-
-
Chandesris, M.O.1
Melki, I.2
Natividad, A.3
Puel, A.4
Fieschi, C.5
Yun, L.6
-
45
-
-
33845897463
-
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
-
17088085 10.1016/j.immuni.2006.09.009 1:CAS:528:DC%2BD28Xht1Gnt7zI
-
Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006;25:745-55.
-
(2006)
Immunity
, vol.25
, pp. 745-755
-
-
Minegishi, Y.1
Saito, M.2
Morio, T.3
Watanabe, K.4
Agematsu, K.5
Tsuchiya, S.6
-
46
-
-
84860015114
-
A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome
-
22402565 10.1016/j.jpeds.2012.01.056 The authors report here the second Tyk2 deficient patient with phenotypic expression different from that observed in the first patient (Minegishi et al. Immunity 2006;25:745-55)
-
• Kilic SS, Hacimustafaoglu M, Boisson-Dupuis S, Kreins AY, Grant AV, Abel L, et al. A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. J Pediatr 2012;160:1055-7. The authors report here the second Tyk2 deficient patient with phenotypic expression different from that observed in the first patient (Minegishi et al., Immunity 2006;25:745-55).
-
(2012)
J Pediatr
, vol.160
, pp. 1055-1057
-
-
Kilic, S.S.1
Hacimustafaoglu, M.2
Boisson-Dupuis, S.3
Kreins, A.Y.4
Grant, A.V.5
Abel, L.6
-
47
-
-
33749600724
-
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: Molecular, cellular, and clinical features
-
16997570 10.1016/j.smim.2006.07.010 1:CAS:528:DC%2BD28XhtVGjtbzN
-
Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de Beaucoudrey L, Feinberg J, et al. Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol. 2006;18(6):347-61.
-
(2006)
Semin Immunol
, vol.18
, Issue.6
, pp. 347-361
-
-
Filipe-Santos, O.1
Bustamante, J.2
Chapgier, A.3
Vogt, G.4
De Beaucoudrey, L.5
Feinberg, J.6
-
48
-
-
57149144518
-
The genetic heterogeneity of Mendelian susceptibility to mycobacterial diseases
-
19084105 10.1016/j.jaci.2008.10.037 1:CAS:528:DC%2BD1cXhsV2lsbfE
-
Al-Muhsen S, Casanova JL. The genetic heterogeneity of Mendelian susceptibility to mycobacterial diseases. J Allergy Clin Immunol. 2008;122:1043-51.
-
(2008)
J Allergy Clin Immunol
, vol.122
, pp. 1043-1051
-
-
Al-Muhsen, S.1
Casanova, J.L.2
-
49
-
-
78649351360
-
Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries
-
10.1097/MD.0b013e3181fdd832
-
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, et al. Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89:381-402.
-
(2010)
Medicine (Baltimore)
, vol.89
, pp. 381-402
-
-
De Beaucoudrey, L.1
Samarina, A.2
Bustamante, J.3
Cobat, A.4
Boisson-Dupuis, S.5
Feinberg, J.6
-
50
-
-
79953284685
-
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity
-
This is the first report on AR IL-17RA and AD IL-17F deficiencies predisposing patients to chronic mucocutaneous candidiasis disease. The authors clearly demonstrate an essential role of humanIL-17A and/or IL-17 F in host defense against Candida on mucocutaneous surfaces
-
• 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. This is the first report on AR IL-17RA and AD IL-17F deficiencies predisposing patients to chronic mucocutaneous candidiasis disease. The authors clearly demonstrate an essential role of humanIL-17A and/or IL-17 F in host defense against Candida on mucocutaneous surfaces.
-
(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
-
51
-
-
79961154447
-
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
-
This is one of the very first reports on chronic mucocutaneous candidiasis disease caused by dominant mutations in STAT1 in a series of 47 patients. The authors provide mechanistic data suggesting that the mutant alleles are gain-of function due to gain of nuclear phosphorylation of STAT1
-
• 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. This is one of the very first reports on chronic mucocutaneous candidiasis disease caused by dominant mutations in STAT1 in a series of 47 patients. The authors provide mechanistic data suggesting that the mutant alleles are gain-of function due to gain of nuclear phosphorylation of STAT1.
-
(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
-
52
-
-
79960094057
-
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis
-
This is one of the very first reports describing dominant mutations in STAT1 causing chronic mucocutaneous candidiasis disease in a series of 14 patients
-
• 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. This is one of the very first reports describing dominant mutations in STAT1 causing chronic mucocutaneous candidiasis disease in a series of 14 patients.
-
(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
-
53
-
-
84862888780
-
Herpes in STAT1mutation
-
This study is the first description of two related patients with a STAT1coiled coil domain gain-of-function mutation associated with recurrent herpes virus disease in addition to chronic mucocutaneous candidiasis
-
• Tóth B, Méhes L, Taskó S, Szalai Z, Tulassay, Cypowyj S, et al. Herpes in STAT1mutation. The Lancet 2012;379:2500. This study is the first description of two related patients with a STAT1coiled coil domain gain-of-function mutation associated with recurrent herpes virus disease in addition to chronic mucocutaneous candidiasis.
-
(2012)
The Lancet
, vol.379
, pp. 2500
-
-
Tóth B, M.1
-
54
-
-
83355168761
-
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis
-
22195034 10.1371/journal.pone.0029248 1:CAS:528:DC%2BC38XjtFOqsA%3D%3D
-
Smeekens SP, Plantinga TS, van de Veerdonk FL, et al. STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. PLoS One. 2011;6(12):e29248.
-
(2011)
PLoS One
, vol.6
, Issue.12
, pp. 29248
-
-
Smeekens, S.P.1
Plantinga, T.S.2
Van De Veerdonk, F.L.3
-
55
-
-
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, 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.
-
(2012)
J Clin Immunol
, vol.32
, Issue.6
, pp. 1213-1220
-
-
Hori, T.1
Ohnishi, H.2
Teramoto, T.3
-
56
-
-
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, et al. Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. J Immunol. 2012;189(3):1521-6.
-
(2012)
J Immunol
, vol.189
, Issue.3
, pp. 1521-1526
-
-
Takezaki, S.1
Yamada, M.2
Kato, M.3
-
57
-
-
84865174263
-
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease
-
22573496 10.1002/humu.22113 1:CAS:528:DC%2BC38XhtFOqtrvM
-
Tsumura M, Okada S, Sakai H, Yasunaga S, Ohtsubo M, Murata T, et al. Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. Hum Mutat. 2012;33(9):1377-87.
-
(2012)
Hum Mutat
, vol.33
, Issue.9
, pp. 1377-1387
-
-
Tsumura, M.1
Okada, S.2
Sakai, H.3
Yasunaga, S.4
Ohtsubo, M.5
Murata, T.6
-
58
-
-
84857728047
-
Primary immunodeficiency diseases: An update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
-
10.3389/fimmu 22566844 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;2:54. doi: 10.3389/fimmu.
-
(2011)
Front Immunol
, vol.2
, pp. 54
-
-
Al-Herz, W.1
Bousfiha, A.2
Casanova, J.L.3
Chapel, H.4
Conley, M.E.5
Cunningham-Rundles, C.6
|