Variable Presentations of Gain of Function STAT1 Mutations within a Single Institution with Features Beyond Chronic Mucocutaneous Candidiasis

Single Institution ◽

Gain Of Function ◽

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):

Gain Of Function ◽

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):

Gain Of Function ◽

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):

Signal Transducer ◽

Gain Of Function ◽

The potential role for topical imiquimod in the treatment of Chronic mucocutaneous candidiasis caused by gain‐of‐function mutation in STAT1 : a case‐report

Dermatologic Therapy ◽

10.1111/dth.15043 ◽

2021 ◽

Author(s):

Joel Reis ◽

Frank L. Veerdonk ◽

Agostinho Carvalho ◽

Alexandre Fernandes ◽

Susana Machado

Keyword(s):

Case Report ◽

Potential Role ◽

Gain Of Function ◽

Mucocutaneous Candidiasis ◽

Topical Imiquimod

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

Journal of Clinical Immunology ◽

10.1007/s10875-015-0214-9 ◽

2015 ◽

Vol 36 (1) ◽

pp. 73-84 ◽

Cited By ~ 65

Author(s):

Mark Depner ◽

Sebastian Fuchs ◽

Jan Raabe ◽

Natalie Frede ◽

Cristina Glocker ◽

...

Keyword(s):

Clinical Phenotype ◽

Gain Of Function ◽

A gain-of-function mutation of STAT1 in a 3-year-old child with chronic mucocutaneous candidiasis and autoimmune hepatitis: a case report

World Allergy Organization Journal ◽

10.1186/1939-4551-8-s1-a83 ◽

2015 ◽

Vol 8 ◽

pp. A83 ◽

Cited By ~ 1

Author(s):

Thais Carvalho Gave ◽

Persio Roxo ◽

Marilia Melo Rocha ◽

Roberta Kelly Marques Ferreira ◽

João Bosco Oliveira-Filho ◽

...

Keyword(s):

Case Report ◽

Autoimmune Hepatitis ◽

Hepatitis A ◽

Gain Of Function ◽

Chronic mucocutaneous candidiasis due to gain‐of‐function mutation in STAT 1

Oral Diseases ◽

10.1111/odi.12881 ◽

2018 ◽

Vol 25 (3) ◽

pp. 684-692 ◽

Cited By ~ 8

Author(s):

Barbara Carey ◽

Jonathan Lambourne ◽

Stephen Porter ◽

Tim Hodgson

Keyword(s):

Gain Of Function ◽

A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis

Molecular Immunology ◽

10.1016/j.molimm.2015.09.014 ◽

2015 ◽

Vol 68 (2) ◽

pp. 597-605 ◽

Cited By ~ 13

Author(s):

Laura Martinez-Martinez ◽

Maria Teresa Martinez-Saavedra ◽

Pablo Fuentes-Prior ◽

Maria Barnadas ◽

Maria Victoria Rubiales ◽

...

Keyword(s):

Gain Of Function ◽

Mucocutaneous Candidiasis ◽

Ifn Γ

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 ◽

Gain Of Function ◽

A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis

BMJ Case Reports ◽

10.1136/bcr-2015-211372 ◽

2015 ◽

pp. bcr2015211372 ◽

Cited By ~ 10

Author(s):

Jakob Nielsen ◽

Emil Kofod-Olsen ◽

Eva Spaun ◽

Carsten S Larsen ◽

Mette Christiansen ◽

...

Keyword(s):

Gain Of Function ◽