Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation

Journal of Allergy and Clinical Immunology

Volumn 135, Issue 2, 2015, Pages 551-553.e3

  Higgins, Eleanor ^a   Al Shehri, Tariq ^b   McAleer, Maeve A ^c   Conlon, Niall ^a   Feighery, Conleth ^a   Lilic, Desa ^b   Irvine, Alan D ^a,c,d  

^a ST JAMES S HOSPITAL   (Ireland)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^d TRINITY COLLEGE DUBLIN   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; RUXOLITINIB; STAT1 PROTEIN; PROTEIN KINASE INHIBITOR; PYRAZOLE DERIVATIVE;

ALOPECIA AREATA; GAIN OF FUNCTION MUTATION; HUMAN; LETTER; MUCOCUTANEOUS CANDIDIASIS; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; STIMULATION; WESTERN BLOTTING; CANDIDIASIS, CHRONIC MUCOCUTANEOUS; GENETICS; HETEROZYGOTE; MUTATION; TREATMENT OUTCOME;

CANDIDIASIS, CHRONIC MUCOCUTANEOUS; HETEROZYGOTE; HUMANS; MUTATION; PROTEIN KINASE INHIBITORS; PYRAZOLES; STAT1 TRANSCRIPTION FACTOR; TREATMENT OUTCOME;

EID: 84922388196     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.12.1867     Document Type: Article

References (11)

1. L. Xing, Z. Dai, A. Jabbari, J.E. Cerise, C.A. Higgins, and W. Gong Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition Nat Med 20 2014 1043 1049
2. Y. Liu, A.A. Jesus, B. Marrero, D. Yang, S.E. Ramsey, and G.A. Montealegre Sanchez Activated STING in a vascular and pulmonary syndrome N Engl J Med 371 2014 507 518
3. S. Takezaki, M. Yamada, M. Kato, M.J. Park, K. Maruyama, and Y. Yamazaki Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain J Immunol 189 2012 1521 1526
4. F.L. van de Veerdonk, T.S. Plantinga, A. Hoischen, S.P. Smeekens, L.A. Joosten, and C. Gilissen STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis N Engl J Med 365 2011 54 61
5. L. Liu, S. Okada, X.F. Kong, A.Y. Kreins, S. Cypowyj, and A. Abhyankar Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis J Exp Med 208 2011 1635 1648
6. C. Harrison, J.J. Kiladjian, H.K. Al-Ali, H. Gisslinger, R. Waltzman, and V. Stalbovskaya JAK inhibition with ruxolitinib versus best available therapy for myelofibrosis N Engl J Med 366 2012 787 798
7. B. Soltesz, B. Toth, N. Shabashova, A. Bondarenko, S. Okada, and S. Cypowyj New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe J Med Genet 50 2013 567 578
8. N. Sharfe, A. Nahum, A. Newell, H. Dadi, B. Ngan, and S.L. Pereira Fatal combined immunodeficiency associated with heterozygous mutation in STAT1 J Allergy Clin Immunol 133 2014 807 817
9. A. Puel, S. Cypowyj, L. Marodi, L. Abel, C. Picard, and J.L. Casanova Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis Curr Opin Allergy Clin Immunol 12 2012 616 622
10. W.F. Ng, A. von Delwig, A.J. Carmichael, P.D. Arkwright, M. Abinun, and A.J. Cant Impaired T(H)17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy J Allergy Clin Immunol 126 2010 1006 1015 e1-4
11. N. Romberg, H. Morbach, M.G. Lawrence, S. Kim, I. Kang, and S.M. Holland Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival J Allergy Clin Immunol 131 2013 1691 1693