Pathogenesis and virulence of Candida albicans

JP Lopes, MS Lionakis - Virulence, 2022 - Taylor & Francis
Candida albicans is a commensal yeast fungus of the human oral, gastrointestinal, and
genital mucosal surfaces, and skin. Antibiotic-induced dysbiosis, iatrogenic …

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 …

Lessons from primary immunodeficiencies: autoimmune regulator and autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy

GM Constantine, MS Lionakis - Immunological reviews, 2019 - Wiley Online Library
The discovery of the autoimmune regulator (AIRE) protein and the delineation of its critical
contributions in the establishment of central immune tolerance has significantly expanded …

Clinical relevance of gain-and loss-of-function germline mutations in STAT1: a systematic review

W Zhang, X Chen, G Gao, S Xing, L Zhou… - Frontiers in …, 2021 - frontiersin.org
Background: Germline mutations in signal transducer and activator of transcription 1
(STAT1), which lead to primary immunodeficiency, are classified as defects in intrinsic and …

[PDF][PDF] Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1

T Asano, T Utsumi, R Kagawa… - Clinical and …, 2023 - academic.oup.com
STAT1 dysfunction causes a wide range of immune dysregulation phenotypes, which have
been classified into four disease types, namely,(i) autosomal recessive (AR) complete …

Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations …

T Asano, K Noma, Y Mizoguchi… - Immunological …, 2024 - Wiley Online Library
Germline human heterozygous STAT1 gain‐of‐function (GOF) variants were first discovered
a common cause of chronic mucocutaneous candidiasis (CMC) in 2011. Since then …

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib

T Al Shehri, K Gilmour, F Gothe, S Loughlin… - Journal of clinical …, 2019 - Springer
Mutations in the coiled-coil and DNA-binding domains of STAT1 lead to delayed STAT1
dephosphorylation and subsequently gain-of-function. The associated clinical phenotype is …

Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations

WT Lei, YF Lo, M Tsumura, JY Ding, CC Lo… - Journal of Clinical …, 2024 - Springer
Abstract Purpose Heterozygous STAT1 Gain-of-Function (GOF) mutations are the most
common cause of chronic mucocutaneous candidiasis (CMC) among Inborn Errors of …

Bacille Calmette–Guerin complications in newly described primary immunodeficiency diseases: 2010–2017

CJ Nunes-Santos, SD Rosenzweig - Frontiers in Immunology, 2018 - frontiersin.org
Bacille Calmette–Guerin (BCG) vaccine is widely used as a prevention strategy against
tuberculosis. BCG is a live vaccine, usually given early in life in most countries. While safe to …

Effects of SENP1-induced deSUMOylation of STAT1 on proliferation and invasion in nasopharyngeal carcinoma

J Zhang, G Tan, M Jiang, T Wang, G Liu, S Xiong… - Cellular …, 2023 - Elsevier
Nasopharyngeal carcinoma (NPC) is the most common nasopharyngeal squamous cell
carcinoma, and recurrence and metastasis are still difficult problems in its current treatment …