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Volumn 113, Issue 51, 2016, Pages E8277-E8285

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

(42)  Lévy, Romain a,b   Okada, Satoshi b,c   Béziat, Vivien a   Moriya, Kunihiko a   Liu, Caini d   Chai, Louis Yi Ann a,t   Migaud, Mélanie a   Hauck, Fabian e   Al Ali, Amein f   Cyrus, Cyril f   Vatte, Chittibabu f   Patiroglu, Turkan g   Unal, Ekrem g   Ferneiny, Marie h   Hyakuna, Nobuyuki i   Nepesov, Serdar j   Oleastro, Matias k   Ikinciogullari, Aydan l   Dogu, Figen l   Asano, Takaki c   more..


Author keywords

Candidiasis; Genetics; Immunodeficiency

Indexed keywords

BETA DEFENSIN 2; GAMMA INTERFERON; HETERODIMER; HOMODIMER; INTERLEUKIN 17; INTERLEUKIN 17 RECEPTOR; INTERLEUKIN 17F; INTERLEUKIN 2; INTERLEUKIN 22; INTERLEUKIN 25; INTERLEUKIN 6; IL17A PROTEIN, HUMAN; IL17F PROTEIN, HUMAN; IL17RA PROTEIN, HUMAN; IL25 PROTEIN, HUMAN;

EID: 85006873332     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1618300114     Document Type: Article
Times cited : (139)

References (95)
  • 1
    • 84871321329 scopus 로고    scopus 로고
    • Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis
    • 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
  • 2
    • 84863722197 scopus 로고    scopus 로고
    • Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: Molecular, cellular, and clinical features from a French national survey
    • Chandesris M-O, et al. (2012) Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: Molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore) 91(4):e1-e19.
    • (2012) Medicine (Baltimore) , vol.91 , Issue.4 , pp. e1-e19
    • Chandesris, M.-O.1
  • 3
    • 84937822800 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
    • Kisand K, Peterson P (2015) Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. J Clin Immunol 35(5):463-478.
    • (2015) J Clin Immunol , vol.35 , Issue.5 , pp. 463-478
    • Kisand, K.1    Peterson, P.2
  • 5
    • 0014221529 scopus 로고
    • Chronic mucocutaneous candidiasis, deficiency of delayed hypersensitivity, and selective local antibody defect
    • Chilgren RA, Quie PG, Meuwissen HJ, Hong R (1967) Chronic mucocutaneous candidiasis, deficiency of delayed hypersensitivity, and selective local antibody defect. Lancet 2(7518):688-693.
    • (1967) Lancet , vol.2 , Issue.7518 , pp. 688-693
    • Chilgren, R.A.1    Quie, P.G.2    Meuwissen, H.J.3    Hong, R.4
  • 6
    • 77955710658 scopus 로고    scopus 로고
    • Inborn errors of mucocutaneous immunity to Candida albicans in humans: A role for IL-17 cytokines?
    • Puel A, et al. (2010) 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
  • 7
    • 84952683321 scopus 로고    scopus 로고
    • Human genetic basis of interindividual variability in the course of infection
    • Casanova J-L (2015) Human genetic basis of interindividual variability in the course of infection. Proc Natl Acad Sci USA 112(51):E7118-E7127.
    • (2015) Proc Natl Acad Sci USA , vol.112 , Issue.51 , pp. E7118-E7127
    • Casanova, J.-L.1
  • 8
    • 84952685581 scopus 로고    scopus 로고
    • Severe infectious diseases of childhood as monogenic inborn errors of immunity
    • Casanova J-L (2015) Severe infectious diseases of childhood as monogenic inborn errors of immunity. Proc Natl Acad Sci USA 112(51):E7128-E7137.
    • (2015) Proc Natl Acad Sci USA , vol.112 , Issue.51 , pp. E7128-E7137
    • Casanova, J.-L.1
  • 9
    • 79953284685 scopus 로고    scopus 로고
    • 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(6025):65-68.
    • (2011) Science , vol.332 , Issue.6025 , pp. 65-68
    • Puel, A.1
  • 10
    • 84937713659 scopus 로고    scopus 로고
    • Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis
    • 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
  • 11
    • 84885865938 scopus 로고    scopus 로고
    • An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis
    • 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
  • 12
    • 68849084891 scopus 로고    scopus 로고
    • Structure and signalling in the IL-17 receptor family
    • Gaffen SL (2009) Structure and signalling in the IL-17 receptor family. Nat Rev Immunol 9(8):556-567.
    • (2009) Nat Rev Immunol , vol.9 , Issue.8 , pp. 556-567
    • Gaffen, S.L.1
  • 13
    • 84889053021 scopus 로고    scopus 로고
    • A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation
    • Aldave JC, et al. (2013) A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation. J Clin Immunol 33(8):1273-1275.
    • (2013) J Clin Immunol , vol.33 , Issue.8 , pp. 1273-1275
    • Aldave, J.C.1
  • 14
    • 84921843884 scopus 로고    scopus 로고
    • A young boy with a novel, autosomal-dominant signal transducer and activator of transcription 1 (STAT1) hypermorphic mutation presenting with pneumocystis Jirovecii pneumonia (PJP), chronic mucocutaneous candidiasis (CMC), and combined immunodeficiency
    • Altman MC, et al. (2014) A young boy with a novel, autosomal-dominant signal transducer and activator of transcription 1 (STAT1) hypermorphic mutation presenting with pneumocystis Jirovecii pneumonia (PJP), chronic mucocutaneous candidiasis (CMC), and combined immunodeficiency. J Allergy Clin Immunol 133(2 Suppl):AB250.
    • (2014) J Allergy Clin Immunol , vol.133 , Issue.2
    • Altman, M.C.1
  • 15
    • 84977509392 scopus 로고    scopus 로고
    • Sporadic case of chronic mucocutaneous candidiasis (CMC) due to a gain-of-function mutation in STAT1 in a 13 year old female
    • Baer Ellington AE, Shih JA (2014) Sporadic case of chronic mucocutaneous candidiasis (CMC) due to a gain-of-function mutation in STAT1 in a 13 year old female. J Allergy Clin Immunol 133(2 Suppl):AB250.
    • (2014) J Allergy Clin Immunol , vol.133 , Issue.2
    • Baer Ellington, A.E.1    Shih, J.A.2
  • 16
    • 85006935836 scopus 로고    scopus 로고
    • Variable presentations of gain of function STAT1 mutations within a single institution with features beyond chronic mucocutaneous candidiasis
    • Bina SM, et al. (2014) Variable presentations of gain of function STAT1 mutations within a single institution with features beyond chronic mucocutaneous candidiasis. J Allergy Clin Immunol 135(2 Suppl):AB186.
    • (2014) J Allergy Clin Immunol , vol.135 , Issue.2
    • Bina, S.M.1
  • 17
    • 84958172992 scopus 로고    scopus 로고
    • The extended clinical phenotype of 26 patients with chronic mucocutaneous candidiasis due to gain-of-function mutations in STAT1
    • Depner M, et al. (2016) The extended clinical phenotype of 26 patients with chronic mucocutaneous candidiasis due to gain-of-function mutations in STAT1. J Clin Immunol 36(1):73-84.
    • (2016) J Clin Immunol , vol.36 , Issue.1 , pp. 73-84
    • Depner, M.1
  • 18
    • 84983247081 scopus 로고    scopus 로고
    • Chronic mucocutaneous candidiasis: Characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility
    • Dhalla F, et al. (2016) Chronic mucocutaneous candidiasis: Characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility. Clin Exp Immunol 184(2):216-227.
    • (2016) Clin Exp Immunol , vol.184 , Issue.2 , pp. 216-227
    • Dhalla, F.1
  • 19
    • 84955072089 scopus 로고    scopus 로고
    • Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: Presenting as treatment-resistant candidiasis and chronic lung disease
    • Dotta L, et al. (2016) Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: Presenting as treatment-resistant candidiasis and chronic lung disease. Clin Immunol 164:1-9.
    • (2016) Clin Immunol , vol.164 , pp. 1-9
    • Dotta, L.1
  • 20
    • 84914151539 scopus 로고    scopus 로고
    • Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding
    • Frans G, et al. (2014) Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding. J Allergy Clin Immunol 134(5):1209-13.e6.
    • (2014) J Allergy Clin Immunol , vol.134 , Issue.5 , pp. 1209-1213.e6
    • Frans, G.1
  • 21
    • 84959252254 scopus 로고    scopus 로고
    • Novel STAT1 gain-of-function mutation and suppurative infections
    • Giardino G, et al. (2016) Novel STAT1 gain-of-function mutation and suppurative infections. Pediatr Allergy Immunol 27(2):220-223.
    • (2016) Pediatr Allergy Immunol , vol.27 , Issue.2 , pp. 220-223
    • Giardino, G.1
  • 22
    • 84922388196 scopus 로고    scopus 로고
    • Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation
    • Higgins E, et al. (2015) Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation. J Allergy Clin Immunol 135(2):551-553.
    • (2015) J Allergy Clin Immunol , vol.135 , Issue.2 , pp. 551-553
    • Higgins, E.1
  • 23
    • 84878230196 scopus 로고    scopus 로고
    • Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism
    • Hori T, et al. (2012) Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. J Clin Immunol 32(6):1213-1220.
    • (2012) J Clin Immunol , vol.32 , Issue.6 , pp. 1213-1220
    • Hori, T.1
  • 24
    • 84957976371 scopus 로고    scopus 로고
    • Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation
    • Kataoka S, et al. (2016) Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation. J Allergy Clin Immunol 137(2):619-622.e1.
    • (2016) J Allergy Clin Immunol , vol.137 , Issue.2
    • Kataoka, S.1
  • 25
    • 84943588600 scopus 로고    scopus 로고
    • Orf Infection in a patient with Stat1 gain-of-function
    • Kilic SS, Puel A, Casanova J-L (2015) Orf Infection in a patient with Stat1 gain-of-function. J Clin Immunol 35(1):80-83.
    • (2015) J Clin Immunol , vol.35 , Issue.1 , pp. 80-83
    • Kilic, S.S.1    Puel, A.2    Casanova, J.-L.3
  • 26
    • 84903734036 scopus 로고    scopus 로고
    • Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis
    • Kumar N, et al. (2014) Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis. J Allergy Clin Immunol 134(1):236-239.
    • (2014) J Allergy Clin Immunol , vol.134 , Issue.1 , pp. 236-239
    • Kumar, N.1
  • 27
    • 84896709292 scopus 로고    scopus 로고
    • Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations
    • Lee PPW, et al. (2014) Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations. J Allergy Clin Immunol 133(3):894-6.e5.
    • (2014) J Allergy Clin Immunol , vol.133 , Issue.3
    • Lee, P.P.W.1
  • 28
    • 79961154447 scopus 로고    scopus 로고
    • Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
    • 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
  • 29
    • 84949213854 scopus 로고    scopus 로고
    • A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis
    • Martinez-Martinez L, et al. (2015) A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. Mol Immunol 68(2 Pt C):597-605.
    • (2015) Mol Immunol , vol.68 , Issue.2 , pp. 597-605
    • Martinez-Martinez, L.1
  • 30
    • 84897085473 scopus 로고    scopus 로고
    • IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation
    • Mekki N, et al. (2014) IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation. J Invest Dermatol 134(4):1155-1157.
    • (2014) J Invest Dermatol , vol.134 , Issue.4 , pp. 1155-1157
    • Mekki, N.1
  • 31
    • 84899791876 scopus 로고    scopus 로고
    • Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis
    • Mizoguchi Y, et al. (2014) Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. J Leukoc Biol 95(4):667-676.
    • (2014) J Leukoc Biol , vol.95 , Issue.4 , pp. 667-676
    • Mizoguchi, Y.1
  • 32
    • 84963938592 scopus 로고    scopus 로고
    • Ruxolitinib induces interleukin 17 and ameliorates chronic mucocutaneous candidiasis caused by STAT1 gain-of-function mutation
    • Mössner R, et al. (2016) Ruxolitinib induces interleukin 17 and ameliorates chronic mucocutaneous candidiasis caused by STAT1 gain-of-function mutation. Clin Infect Dis 62(7):951-953.
    • (2016) Clin Infect Dis , vol.62 , Issue.7 , pp. 951-953
    • Mössner, R.1
  • 33
    • 84878592257 scopus 로고    scopus 로고
    • Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival
    • Romberg N, et al. (2013) Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival. J Allergy Clin Immunol 131(6):1691-1693.
    • (2013) J Allergy Clin Immunol , vol.131 , Issue.6 , pp. 1691-1693
    • Romberg, N.1
  • 34
    • 84977533569 scopus 로고    scopus 로고
    • A young adult male with chronic mucocutaneous candidiasis (CMC) with signal transduction and activator of transcription 1 (STAT 1) mutation and progressive multifocal leukoencephalopathy (PML)
    • Ruda Wessell KM, et al. (2015) A young adult male with chronic mucocutaneous candidiasis (CMC) with signal transduction and activator of transcription 1 (STAT 1) mutation and progressive multifocal leukoencephalopathy (PML). J Allergy Clin Immunol 135(2 Suppl):AB186.
    • (2015) J Allergy Clin Immunol , vol.135 , Issue.2
    • Ruda Wessell, K.M.1
  • 35
    • 84879421310 scopus 로고    scopus 로고
    • 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
    • Al Rushood M, et al. (2013) 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 163(1):277-279.
    • (2013) J Pediatr , vol.163 , Issue.1 , pp. 277-279
    • Al Rushood, M.1
  • 36
    • 84951802318 scopus 로고    scopus 로고
    • A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis
    • bcr2015211372
    • Nielsen J, et al. (2015) A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. BMJ Case Rep 2015:bcr2015211372.
    • (2015) BMJ Case Rep , vol.2015
    • Nielsen, J.1
  • 37
    • 84921869329 scopus 로고    scopus 로고
    • Fungal granuloma and chronic mucocutaneous candidiasis due to autosomal dominant gain of function STAT1 mutation
    • Salim N, Leiding J (2014) Fungal granuloma and chronic mucocutaneous candidiasis due to autosomal dominant gain of function STAT1 mutation. J Allergy Clin Immunol 133(2 Suppl):AB251.
    • (2014) J Allergy Clin Immunol , vol.133 , Issue.2
    • Salim, N.1    Leiding, J.2
  • 38
    • 84878568160 scopus 로고    scopus 로고
    • Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis
    • Sampaio EP, et al. (2013) Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. J Allergy Clin Immunol 131(6):1624-1634.
    • (2013) J Allergy Clin Immunol , vol.131 , Issue.6 , pp. 1624-1634
    • Sampaio, E.P.1
  • 39
    • 84896729331 scopus 로고    scopus 로고
    • Fatal combined immunodeficiency associated with heterozygous mutation in STAT1
    • Sharfe N, et al. (2014) Fatal combined immunodeficiency associated with heterozygous mutation in STAT1. J Allergy Clin Immunol 133(3):807-817.
    • (2014) J Allergy Clin Immunol , vol.133 , Issue.3 , pp. 807-817
    • Sharfe, N.1
  • 40
    • 83355168761 scopus 로고    scopus 로고
    • STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis
    • Smeekens SP, et al. (2011) STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. PLoS One 6(12):e29248.
    • (2011) PLoS One , vol.6 , Issue.12
    • Smeekens, S.P.1
  • 41
    • 84883157575 scopus 로고    scopus 로고
    • New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
    • Soltész B, et al. (2013) New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. J Med Genet 50(9):567-578.
    • (2013) J Med Genet , vol.50 , Issue.9 , pp. 567-578
    • Soltész, B.1
  • 42
    • 84864126962 scopus 로고    scopus 로고
    • Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain
    • Takezaki S, et al. (2012) Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. J Immunol 189(3):1521-1526.
    • (2012) J Immunol , vol.189 , Issue.3 , pp. 1521-1526
    • Takezaki, S.1
  • 43
    • 84937398772 scopus 로고    scopus 로고
    • Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation
    • Tanimura M, et al. (2015) Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation. Int J Cardiol 196:88-90.
    • (2015) Int J Cardiol , vol.196 , pp. 88-90
    • Tanimura, M.1
  • 44
    • 84862888780 scopus 로고    scopus 로고
    • Herpes in STAT1 gain-of-function mutation
    • Tóth B, et al. (2012) Herpes in STAT1 gain-of-function mutation. Lancet 379(9835):2500
    • (2012) Lancet , vol.379 , Issue.9835 , pp. 2500
    • Tóth, B.1
  • 45
    • 85045290808 scopus 로고    scopus 로고
    • Erratum: Herpes in STAT1 gain-of-function mutation
    • erratum Tóth B, et al. (2012) Herpes in STAT1 gain-of-function mutation. Lancet 380(9844):806.
    • (2012) Lancet , vol.380 , Issue.9844 , pp. 806
    • Tóth, B.1
  • 46
    • 84878556463 scopus 로고    scopus 로고
    • Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome
    • Uzel G, et al. (2013) Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol 131(6):1611-1623.
    • (2013) J Allergy Clin Immunol , vol.131 , Issue.6 , pp. 1611-1623
    • Uzel, G.1
  • 47
    • 79960094057 scopus 로고    scopus 로고
    • STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis
    • van de Veerdonk FL, et al. (2011) STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med 365(1):54-61.
    • (2011) N Engl J Med , vol.365 , Issue.1 , pp. 54-61
    • Van De Veerdonk, F.L.1
  • 48
    • 84875718177 scopus 로고    scopus 로고
    • Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis
    • Wang X, et al. (2013) Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis. J Allergy Clin Immunol 131(4):1242-1243.
    • (2013) J Allergy Clin Immunol , vol.131 , Issue.4 , pp. 1242-1243
    • Wang, X.1
  • 49
    • 84883238238 scopus 로고    scopus 로고
    • Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: Complete clinical remission with restoration of IL-17 secretion
    • Wildbaum G, et al. (2013) Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: Complete clinical remission with restoration of IL-17 secretion. J Allergy Clin Immunol 132(3):761-764.
    • (2013) J Allergy Clin Immunol , vol.132 , Issue.3 , pp. 761-764
    • Wildbaum, G.1
  • 50
    • 84910153914 scopus 로고    scopus 로고
    • Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: Impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody
    • Yamazaki Y, et al. (2014) Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: Impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. J Immunol 193(10):4880-4887.
    • (2014) J Immunol , vol.193 , Issue.10 , pp. 4880-4887
    • Yamazaki, Y.1
  • 51
    • 84964854355 scopus 로고    scopus 로고
    • Progressive multifocal leukoencephalopathy in primary immune deficiencies: Stat1 gain of function and review of the literature
    • Zerbe CS, et al. (2016) Progressive multifocal leukoencephalopathy in primary immune deficiencies: Stat1 gain of function and review of the literature. Clin Infect Dis 62(8):986-994.
    • (2016) Clin Infect Dis , vol.62 , Issue.8 , pp. 986-994
    • Zerbe, C.S.1
  • 52
    • 84977482520 scopus 로고    scopus 로고
    • Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
    • Toubiana J, et al.; International STAT1 Gain-of-Function Study Group (2016) Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood 127(25):3154-3164.
    • (2016) Blood , vol.127 , Issue.25 , pp. 3154-3164
    • Toubiana, J.1
  • 53
    • 84943200494 scopus 로고    scopus 로고
    • Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC)
    • Zheng J, et al. (2015) Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). Eur J Immunol 45(10):2834-2846.
    • (2015) Eur J Immunol , vol.45 , Issue.10 , pp. 2834-2846
    • Zheng, J.1
  • 54
    • 84939154723 scopus 로고    scopus 로고
    • IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
    • 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
  • 55
    • 46949086109 scopus 로고    scopus 로고
    • 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(7):1543-1550.
    • (2008) J Exp Med , vol.205 , Issue.7 , pp. 1543-1550
    • De Beaucoudrey, L.1
  • 56
    • 46949089128 scopus 로고    scopus 로고
    • Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3
    • 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
  • 57
    • 41449110468 scopus 로고    scopus 로고
    • Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
    • 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
  • 58
    • 46049106939 scopus 로고    scopus 로고
    • 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 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
  • 59
    • 77149147477 scopus 로고    scopus 로고
    • Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines
    • Kisand K, et al. (2010) Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med 207(2):299-308.
    • (2010) J Exp Med , vol.207 , Issue.2 , pp. 299-308
    • Kisand, K.1
  • 60
    • 77149124612 scopus 로고    scopus 로고
    • Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I
    • Puel A, et al. (2010) 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
  • 61
    • 84947559428 scopus 로고    scopus 로고
    • IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation
    • Fellmann F, et al. (2016) IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation. J Allergy Clin Immunol 137(4):1189-1196.e1-2.
    • (2016) J Allergy Clin Immunol , vol.137 , Issue.4
    • Fellmann, F.1
  • 62
    • 77958468410 scopus 로고    scopus 로고
    • SEF/IL-17R (SEFIR) is not enough: An extended SEFIR domain is required for il-17RA-mediated signal transduction
    • Onishi RM, et al. (2010) SEF/IL-17R (SEFIR) is not enough: An extended SEFIR domain is required for il-17RA-mediated signal transduction. J Biol Chem 285(43):32751-32759.
    • (2010) J Biol Chem , vol.285 , Issue.43 , pp. 32751-32759
    • Onishi, R.M.1
  • 63
    • 34250667109 scopus 로고    scopus 로고
    • Distinct functional motifs within the IL-17 receptor regulate signal transduction and target gene expression
    • Maitra A, et al. (2007) Distinct functional motifs within the IL-17 receptor regulate signal transduction and target gene expression. Proc Natl Acad Sci USA 104(18):7506-7511.
    • (2007) Proc Natl Acad Sci USA , vol.104 , Issue.18 , pp. 7506-7511
    • Maitra, A.1
  • 64
    • 84978705937 scopus 로고    scopus 로고
    • Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
    • Scott EM, et al.; Greater Middle East Variome Consortium (2016) Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet 48(9):1071-1076.
    • (2016) Nat Genet , vol.48 , Issue.9 , pp. 1071-1076
    • Scott, E.M.1
  • 65
    • 84961309083 scopus 로고    scopus 로고
    • The mutation significance cutoff: Gene-level thresholds for variant predictions
    • Itan Y, et al. (2016) The mutation significance cutoff: Gene-level thresholds for variant predictions. Nat Methods 13(2):109-110.
    • (2016) Nat Methods , vol.13 , Issue.2 , pp. 109-110
    • Itan, Y.1
  • 66
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher M, et al. (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46(3):310-315.
    • (2014) Nat Genet , vol.46 , Issue.3 , pp. 310-315
    • Kircher, M.1
  • 67
    • 0035162061 scopus 로고    scopus 로고
    • A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency
    • Allende LM, et al. (2001) A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency. Clin Diagn Lab Immunol 8(1):133-137.
    • (2001) Clin Diagn Lab Immunol , vol.8 , Issue.1 , pp. 133-137
    • Allende, L.M.1
  • 68
    • 0034067449 scopus 로고    scopus 로고
    • In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma
    • Jouanguy E, et al. (2000) In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. J Clin Invest 105(10):1429-1436.
    • (2000) J Clin Invest , vol.105 , Issue.10 , pp. 1429-1436
    • Jouanguy, E.1
  • 69
    • 11144356328 scopus 로고    scopus 로고
    • HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency
    • Camcioglu Y, et al. (2004) HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency. J Pediatr 144(4):519-523.
    • (2004) J Pediatr , vol.144 , Issue.4 , pp. 519-523
    • Camcioglu, Y.1
  • 70
    • 4344648175 scopus 로고    scopus 로고
    • Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies
    • Dorman SE, et al. (2004) Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet 364(9451):2113-2121.
    • (2004) Lancet , vol.364 , Issue.9451 , pp. 2113-2121
    • Dorman, S.E.1
  • 71
    • 22844449795 scopus 로고    scopus 로고
    • Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
    • Vogt G, et al. (2005) Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 37(7):692-700.
    • (2005) Nat Genet , vol.37 , Issue.7 , pp. 692-700
    • Vogt, G.1
  • 72
    • 49249138373 scopus 로고    scopus 로고
    • Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation
    • Vogt G, et al. (2008) Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation. J Exp Med 205(8):1729-1737.
    • (2008) J Exp Med , vol.205 , Issue.8 , pp. 1729-1737
    • Vogt, G.1
  • 73
    • 4644310307 scopus 로고    scopus 로고
    • A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors
    • Fieschi C, et al. (2004) A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors. Blood 104(7):2095-2101.
    • (2004) Blood , vol.104 , Issue.7 , pp. 2095-2101
    • Fieschi, C.1
  • 74
    • 0037450808 scopus 로고    scopus 로고
    • Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: Medical and immunological implications
    • Fieschi C, et al. (2003) Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: Medical and immunological implications. J Exp Med 197(4):527-535.
    • (2003) J Exp Med , vol.197 , Issue.4 , pp. 527-535
    • Fieschi, C.1
  • 75
    • 84864118162 scopus 로고    scopus 로고
    • Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease
    • Mao H, et al. (2012) Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease. Genes Immun 13(5):437-442.
    • (2012) Genes Immun , vol.13 , Issue.5 , pp. 437-442
    • Mao, H.1
  • 76
    • 79961023788 scopus 로고    scopus 로고
    • Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease
    • Begue B, et al. (2011) Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. Am J Gastroenterol 106(8):1544-1555.
    • (2011) Am J Gastroenterol , vol.106 , Issue.8 , pp. 1544-1555
    • Begue, B.1
  • 77
    • 84902603074 scopus 로고    scopus 로고
    • Directing traffic: IL-17 and IL-22 coordinate pulmonary immune defense
    • McAleer JP, Kolls JK (2014) Directing traffic: IL-17 and IL-22 coordinate pulmonary immune defense. Immunol Rev 260(1):129-144.
    • (2014) Immunol Rev , vol.260 , Issue.1 , pp. 129-144
    • McAleer, J.P.1    Kolls, J.K.2
  • 78
    • 17944364849 scopus 로고    scopus 로고
    • Requirement of interleukin 17 receptor signaling for lung CXC chemokine and granulocyte colony-stimulating factor expression, neutrophil recruitment, and host defense
    • Ye P, et al. (2001) Requirment of interleukin 17 receptor signaling for lung CXC chemokine and granulocyte colony-stimulating factor expression, neutrophil recruitment, and host defense. J Exp Med 194(4):519-527.
    • (2001) J Exp Med , vol.194 , Issue.4 , pp. 519-527
    • Ye, P.1
  • 79
    • 67449149963 scopus 로고    scopus 로고
    • 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(6):1291-1301.
    • (2009) J Exp Med , vol.206 , Issue.6 , pp. 1291-1301
    • Minegishi, Y.1
  • 80
    • 38949194566 scopus 로고    scopus 로고
    • Structure-function relationships in the IL-17 receptor: Implications for signal transduction and therapy
    • Shen F, Gaffen SL (2008) Structure-function relationships in the IL-17 receptor: Implications for signal transduction and therapy. Cytokine 41(2):92-104.
    • (2008) Cytokine , vol.41 , Issue.2 , pp. 92-104
    • Shen, F.1    Gaffen, S.L.2
  • 81
    • 84906535154 scopus 로고    scopus 로고
    • The IL-23-IL-17 immune axis: From mechanisms to therapeutic testing
    • Gaffen SL, Jain R, Garg AV, Cua DJ (2014) The IL-23-IL-17 immune axis: From mechanisms to therapeutic testing. Nat Rev Immunol 14(9):585-600.
    • (2014) Nat Rev Immunol , vol.14 , Issue.9 , pp. 585-600
    • Gaffen, S.L.1    Jain, R.2    Garg, A.V.3    Cua, D.J.4
  • 82
    • 56149091567 scopus 로고    scopus 로고
    • Identification of functional roles for both IL-17RB and IL-17RA in mediating IL-25-induced activities
    • Rickel EA, et al. (2008) Identification of functional roles for both IL-17RB and IL-17RA in mediating IL-25-induced activities. J Immunol 181(6):4299-4310.
    • (2008) J Immunol , vol.181 , Issue.6 , pp. 4299-4310
    • Rickel, E.A.1
  • 83
    • 81255158786 scopus 로고    scopus 로고
    • IL-17RE is the functional receptor for IL-17C and mediates mucosal immunity to infection with intestinal pathogens
    • Song X, et al. (2011) IL-17RE is the functional receptor for IL-17C and mediates mucosal immunity to infection with intestinal pathogens. Nat Immunol 12(12):1151-1158.
    • (2011) Nat Immunol , vol.12 , Issue.12 , pp. 1151-1158
    • Song, X.1
  • 84
    • 81255158784 scopus 로고    scopus 로고
    • IL-17C regulates the innate immune function of epithelial cells in an autocrine manner
    • Ramirez-Carrozzi V, et al. (2011) IL-17C regulates the innate immune function of epithelial cells in an autocrine manner. Nat Immunol 12(12):1159-1166.
    • (2011) Nat Immunol , vol.12 , Issue.12 , pp. 1159-1166
    • Ramirez-Carrozzi, V.1
  • 85
    • 34247873196 scopus 로고    scopus 로고
    • The adaptor Act1 is required for interleukin 17-dependent signaling associated with autoimmune and inflammatory disease
    • Qian Y, et al. (2007) The adaptor Act1 is required for interleukin 17-dependent signaling associated with autoimmune and inflammatory disease. Nat Immunol 8(3):247-256.
    • (2007) Nat Immunol , vol.8 , Issue.3 , pp. 247-256
    • Qian, Y.1
  • 86
    • 33846022750 scopus 로고    scopus 로고
    • Act1 adaptor protein is an immediate and essential signaling component of interleukin-17 receptor
    • Chang SH, Park H, Dong C (2006) Act1 adaptor protein is an immediate and essential signaling component of interleukin-17 receptor. J Biol Chem 281(47):35603-35607.
    • (2006) J Biol Chem , vol.281 , Issue.47 , pp. 35603-35607
    • Chang, S.H.1    Park, H.2    Dong, C.3
  • 87
    • 63149102148 scopus 로고    scopus 로고
    • The critical role of epithelial-derived Act1 in IL-17- and IL-25-mediated pulmonary inflammation
    • Swaidani S, et al. (2009) The critical role of epithelial-derived Act1 in IL-17- and IL-25-mediated pulmonary inflammation. J Immunol 182(3):1631-1640.
    • (2009) J Immunol , vol.182 , Issue.3 , pp. 1631-1640
    • Swaidani, S.1
  • 88
    • 77955489738 scopus 로고    scopus 로고
    • IL-17RC is required for immune signaling via an extended SEF/IL-17R signaling domain in the cytoplasmic tail
    • Ho AW, et al. (2010) IL-17RC is required for immune signaling via an extended SEF/IL-17R signaling domain in the cytoplasmic tail. J Immunol 185(2):1063-1070.
    • (2010) J Immunol , vol.185 , Issue.2 , pp. 1063-1070
    • Ho, A.W.1
  • 89
    • 80755133721 scopus 로고    scopus 로고
    • Interleukin-17C promotes Th17 cell responses and autoimmune disease via interleukin-17 receptor E
    • Chang SH, et al. (2011) Interleukin-17C promotes Th17 cell responses and autoimmune disease via interleukin-17 receptor E. Immunity 35(4):611-621.
    • (2011) Immunity , vol.35 , Issue.4 , pp. 611-621
    • Chang, S.H.1
  • 90
    • 34447281733 scopus 로고    scopus 로고
    • Interleukin 25 promotes the initiation of proallergic type 2 responses
    • Angkasekwinai P, et al. (2007) Interleukin 25 promotes the initiation of proallergic type 2 responses. J Exp Med 204(7):1509-1517.
    • (2007) J Exp Med , vol.204 , Issue.7 , pp. 1509-1517
    • Angkasekwinai, P.1
  • 91
    • 18244405108 scopus 로고    scopus 로고
    • IL-25 induces IL-4, IL-5, and IL-13 and Th2-associated pathologies in vivo
    • Fort MM, et al. (2001) IL-25 induces IL-4, IL-5, and IL-13 and Th2-associated pathologies in vivo. Immunity 15(6):985-995.
    • (2001) Immunity , vol.15 , Issue.6 , pp. 985-995
    • Fort, M.M.1
  • 92
    • 84884410624 scopus 로고    scopus 로고
    • Interleukin-25 (IL-25) promotes efficient protective immunity against Trichinella spiralis infection by enhancing the antigen-specific IL-9 response
    • Angkasekwinai P, et al. (2013) Interleukin-25 (IL-25) promotes efficient protective immunity against Trichinella spiralis infection by enhancing the antigen-specific IL-9 response. Infect Immun 81(10):3731-3741.
    • (2013) Infect Immun , vol.81 , Issue.10 , pp. 3731-3741
    • Angkasekwinai, P.1
  • 93
    • 78650642300 scopus 로고    scopus 로고
    • Critical role of IL-25 in nematode infection-induced alterations in intestinal function
    • Zhao A, et al. (2010) Critical role of IL-25 in nematode infection-induced alterations in intestinal function. J Immunol 185(11):6921-6929.
    • (2010) J Immunol , vol.185 , Issue.11 , pp. 6921-6929
    • Zhao, A.1
  • 94
    • 33645888708 scopus 로고    scopus 로고
    • Identification of an interleukin (IL)-25-dependent cell population that provides IL-4, IL-5, and IL-13 at the onset of helminth expulsion
    • Fallon PG, et al. (2006) Identification of an interleukin (IL)-25-dependent cell population that provides IL-4, IL-5, and IL-13 at the onset of helminth expulsion. J Exp Med 203(4):1105-1116.
    • (2006) J Exp Med , vol.203 , Issue.4 , pp. 1105-1116
    • Fallon, P.G.1
  • 95
    • 84928901662 scopus 로고    scopus 로고
    • Signaling through IL-17C/IL-17RE is dispensable for immunity to systemic, oral and cutaneous candidiasis
    • Conti HR, et al. (2015) Signaling through IL-17C/IL-17RE is dispensable for immunity to systemic, oral and cutaneous candidiasis. PLoS One 10(4):e0122807.
    • (2015) PLoS One , vol.10 , Issue.4
    • Conti, H.R.1


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