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 …
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 …
Chronic mucocutaneous candidiasis disease associated with inborn errors of IL‐17 immunity
Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent
infections affecting the nails, skin and oral and genital mucosae caused by Candida spp …
infections affecting the nails, skin and oral and genital mucosae caused by Candida spp …
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 …
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency
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 …
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
Background Gain-of-function (GOF) mutations in signal transducer and activator of
transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity, immune …
transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity, immune …
Flow cytometry-based diagnosis of primary immunodeficiency diseases
H Kanegane, A Hoshino, T Okano, T Yasumi… - Allergology …, 2018 - jstage.jst.go.jp
abstract Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited
diseases of the immune system. The definite diagnosis of PID is ascertained by genetic …
diseases of the immune system. The definite diagnosis of PID is ascertained by genetic …