Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …
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 …
mucocutaneous candidiasis (CMC) and hypothyroidism were discovered in 2011. CMC is …
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 …
candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have …
[HTML][HTML] The good and the bad faces of STAT1 in solid tumours
K Meissl, S Macho-Maschler, M Müller, B Strobl - Cytokine, 2017 - Elsevier
Signal transducer and activator of transcription (STAT) 1 is part of the Janus kinase
(JAK)/STAT signalling cascade and is best known for its essential role in mediating …
(JAK)/STAT signalling cascade and is best known for its essential role in mediating …
JAKs and STATs from a clinical perspective: loss-of-function mutations, gain-of-function mutations, and their multidimensional consequences
N Ott, L Faletti, M Heeg, V Andreani… - Journal of clinical …, 2023 - Springer
The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in
development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT …
development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT …
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis
Patients with inborn errors of interleukin-17F (IL-17F) or IL-17RA display chronic
mucocutaneous candidiasis (CMC). We report a biallelic missense mutation (T536I) in the …
mucocutaneous candidiasis (CMC). We report a biallelic missense mutation (T536I) in the …
Primary immunodeficiencies underlying fungal infections
F Lanternier, S Cypowyj, C Picard… - Current opinion in …, 2013 - journals.lww.com
CMC, invasive candidiasis, invasive aspergillosis, deep dermatophytosis, pneumocystosis,
and endemic mycoses can all be caused by PIDs. Each type of infection is highly suggestive …
and endemic mycoses can all be caused by PIDs. Each type of infection is highly suggestive …
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
CS Ma, N Wong, G Rao, DT Avery, J Torpy… - Journal of Allergy and …, 2015 - Elsevier
Background Follicular helper T (T FH) cells underpin T cell–dependent humoral immunity
and the success of most vaccines. T FH cells also contribute to human immune disorders …
and the success of most vaccines. T FH cells also contribute to human immune disorders …
Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain …
Background Gain-of-function (GOF) mutations in the human signal transducer and activator
of transcription 1 (STAT1) manifest in immunodeficiency and autoimmunity with impaired TH …
of transcription 1 (STAT1) manifest in immunodeficiency and autoimmunity with impaired TH …
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 …
infections of the skin, nail, oral, and genital mucosae with Candida species, mainly C …