Canonical and non-canonical aspects of JAK–STAT signaling: lessons from interferons for cytokine responses

A Majoros, E Platanitis, E Kernbauer-Hölzl… - Frontiers in …, 2017 - frontiersin.org
Janus kinase (JAK)–signal transducer and activator of transcription (STAT) signal
transduction mediates cytokine responses. Canonical signaling is based on STAT tyrosine …

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

J Toubiana, S Okada, J Hiller… - Blood, The Journal …, 2016 - ashpublications.org
Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous
candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have …

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy

S Okada, T Asano, K Moriya, S Boisson-Dupuis… - Journal of clinical …, 2020 - Springer
Heterozygous gain-of-function (GOF) mutations in STAT1 in patients with chronic
mucocutaneous candidiasis (CMC) and hypothyroidism were discovered in 2011. CMC is …

Chronic mucocutaneous candidiasis disease associated with inborn errors of IL‐17 immunity

S Okada, A Puel, JL Casanova… - Clinical & translational …, 2016 - Wiley Online Library
Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent
infections affecting the nails, skin and oral and genital mucosae caused by Candida spp …

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

Y Ling, S Cypowyj, C Aytekin, M Galicchio… - Journal of Experimental …, 2015 - rupress.org
Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent
infections of the skin, nail, oral, and genital mucosae with Candida species, mainly C …

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

R Lévy, S Okada, V Béziat, K Moriya, C Liu… - Proceedings of the …, 2016 - pnas.org
Chronic mucocutaneous candidiasis (CMC) is defined as recurrent or persistent infection of
the skin, nails, and/or mucosae with commensal Candida species. The first genetic etiology …

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations

JW Leiding, S Okada, D Hagin, M Abinun… - Journal of Allergy and …, 2018 - Elsevier
Background Gain-of-function (GOF) mutations in signal transducer and activator of
transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity, immune …

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

E Higgins, T Al Shehri, MA McAleer… - Journal of Allergy and …, 2015 - jacionline.org
To the Editor: Recently, **ng et al 1 demonstrated the role of cytotoxic T lymphocytes in
alopecia areata (AA) and provided important mechanistic information on the pathogenic T …