P78: RUXOLITINIB USE IN A CHILD WITH CHRONIC MUCOCUTANEOUS CANDIDIASIS AND AUTOSOMAL DOMINANT SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1 GAIN OF FUNCTION (STAT1 GOF) MUTATION

Internal Medicine Journal ◽

10.1111/imj.78_13578 ◽

2017 ◽

Vol 47 ◽

pp. 28-28

Author(s):

D Chan ◽

J King ◽

L Dzeladini ◽

B Marchand ◽

M Gold ◽

...

Keyword(s):

Autosomal Dominant ◽

Chronic Mucocutaneous Candidiasis ◽

Signal Transducer ◽

Gain Of Function ◽

Mucocutaneous Candidiasis

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

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725403072.793539040 ◽

2017 ◽

Author(s):

Isabelle Meyts

Keyword(s):

Chronic Mucocutaneous Candidiasis ◽

Signal Transducer ◽

Gain Of Function ◽

Mucocutaneous Candidiasis

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Fungal Granuloma and Chronic Mucocutaneous Candidiasis Due To Autosomal Dominant Gain Of Function STAT1 Mutation

Journal of Allergy and Clinical Immunology ◽

10.1016/j.jaci.2013.12.894 ◽

2014 ◽

Vol 133 (2) ◽

pp. AB251 ◽

Cited By ~ 3

Author(s):

Nauman Salim ◽

Jennifer Leiding

Keyword(s):

Autosomal Dominant ◽

Chronic Mucocutaneous Candidiasis ◽

Gain Of Function ◽

Mucocutaneous Candidiasis

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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 ◽

10.1016/j.jaci.2014.12.1867 ◽

2015 ◽

Vol 135 (2) ◽

pp. 551-553.e3 ◽

Cited By ~ 97

Author(s):

Eleanor Higgins ◽

Tariq Al Shehri ◽

Maeve A. McAleer ◽

Niall Conlon ◽

Conleth Feighery ◽

...

Keyword(s):

Chronic Mucocutaneous Candidiasis ◽

Signal Transducer ◽

Gain Of Function ◽

Mucocutaneous Candidiasis

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Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding

Journal of Allergy and Clinical Immunology ◽

10.1016/j.jaci.2014.05.044 ◽

2014 ◽

Vol 134 (5) ◽

pp. 1209-1213.e6 ◽

Cited By ~ 29

Author(s):

Glynis Frans ◽

Leen Moens ◽

Heidi Schaballie ◽

Lien Van Eyck ◽

Heleen Borgers ◽

...

Keyword(s):

Chronic Mucocutaneous Candidiasis ◽

Signal Transducer ◽

Gain Of Function ◽

Enamel Defects ◽

Mucocutaneous Candidiasis

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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

Journal of Allergy and Clinical Immunology ◽

10.1016/j.jaci.2013.12.890 ◽

2014 ◽

Vol 133 (2) ◽

pp. AB250 ◽

Cited By ~ 3

Author(s):

Matthew C. Altman ◽

David Hagin ◽

David Buchbinder ◽

Suzanne Skoda-Smith ◽

Hans D. Ochs ◽

...

Keyword(s):

Autosomal Dominant ◽

Pneumocystis Jirovecii ◽

Pneumocystis Jirovecii Pneumonia ◽

Chronic Mucocutaneous Candidiasis ◽

Signal Transducer ◽

Combined Immunodeficiency ◽

Mucocutaneous Candidiasis

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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

The Journal of Pediatrics ◽

10.1016/j.jpeds.2013.02.040 ◽

2013 ◽

Vol 163 (1) ◽

pp. 277-279 ◽

Cited By ~ 18

Author(s):

Maysoun Al Rushood ◽

Christine McCusker ◽

Bruce Mazer ◽

Reza Alizadehfar ◽

Bodo Grimbacher ◽

...

Keyword(s):

Autosomal Dominant ◽

Chronic Mucocutaneous Candidiasis ◽

Signal Transducer ◽

Toll Like Receptor ◽

Mucocutaneous Candidiasis

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Faculty Opinions recommendation of Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.12516956.14414069 ◽

2011 ◽

Author(s):

Joshua Milner

Keyword(s):

Chronic Mucocutaneous Candidiasis ◽

Gain Of Function ◽

Mucocutaneous Candidiasis

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Faculty Opinions recommendation of Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.12516956.13881054 ◽

2011 ◽

Author(s):

Sarah Gaffen ◽

Nydiaris Hernandez-Santos

Keyword(s):

Chronic Mucocutaneous Candidiasis ◽

Gain Of Function ◽

Mucocutaneous Candidiasis

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Faculty Opinions recommendation of STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.9977956.13843055 ◽

2011 ◽

Author(s):

Philip Murphy ◽

Michail Lionakis

Keyword(s):

Autosomal Dominant ◽

Chronic Mucocutaneous Candidiasis ◽

Mucocutaneous Candidiasis

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Faculty Opinions recommendation of STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.9977956.13121062 ◽

2011 ◽

Author(s):

Jack Sobel

Keyword(s):

Autosomal Dominant ◽

Chronic Mucocutaneous Candidiasis ◽

Mucocutaneous Candidiasis

Download Full-text