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 …
Abnormalities of the type I interferon signaling pathway in lupus autoimmunity
S Gallucci, S Meka, AM Gamero - Cytokine, 2021 - Elsevier
Type I interferons (IFNs), mostly IFNα and IFNβ, and the type I IFN Signature are important in
the pathogenesis of Systemic Lupus Erythematosus (SLE), an autoimmune chronic …
the pathogenesis of Systemic Lupus Erythematosus (SLE), an autoimmune chronic …
Noncanonical STAT3 activity sustains pathogenic Th17 proliferation and cytokine response to antigen
The STAT3 signaling pathway is required for early Th17 cell development, and therapies
targeting this pathway are used for autoimmune disease. However, the role of STAT3 in …
targeting this pathway are used for autoimmune disease. However, the role of STAT3 in …
[HTML][HTML] PIM kinases regulate early human Th17 cell differentiation
T Buchacher, A Shetty, SA Koskela, J Smolander… - Cell Reports, 2023 - cell.com
The serine/threonine-specific Moloney murine leukemia virus (PIM) kinase family (ie, PIM1,
PIM2, and PIM3) has been extensively studied in tumorigenesis. PIM kinases are …
PIM2, and PIM3) has been extensively studied in tumorigenesis. PIM kinases are …
[HTML][HTML] Transcriptional profiling and machine learning unveil a concordant biosignature of type I interferon-inducible host response across nasal swab and pulmonary …
C Zhang, YG Feng, C Tam, N Wang… - Frontiers in immunology, 2021 - frontiersin.org
Background COVID-19, caused by SARS-CoV-2 virus, is a global pandemic with high
mortality and morbidity. Limited diagnostic methods hampered the infection control. Since …
mortality and morbidity. Limited diagnostic methods hampered the infection control. Since …
An updated review on msmd research globally and a literature review on the molecular findings, clinical manifestations, and treatment approaches in China
L Xia, XH Liu, Y Yuan, DB Lowrie, XY Fan, T Li… - Frontiers in …, 2022 - frontiersin.org
Mendelian susceptibility to mycobacterial disease (MSMD) arises from a group of rare
inherited errors of immunity that result in selective susceptibility of otherwise healthy people …
inherited errors of immunity that result in selective susceptibility of otherwise healthy people …
Primary immunodeficiencies in India: molecular diagnosis and the role of next-generation sequencing
AK Arunachalam, M Maddali, FN Aboobacker… - Journal of clinical …, 2021 - Springer
Primary immunodeficiency diseases (PIDs) are a group of clinically and genetically
heterogeneous disorders showing ethnic and geographic diversities. Next-generation …
heterogeneous disorders showing ethnic and geographic diversities. Next-generation …
Three adult cases of STAT1 gain-of-function with chronic mucocutaneous candidiasis treated with JAK inhibitors
EW Borgström, M Edvinsson, LP Pérez… - Journal of Clinical …, 2023 - Springer
Purpose The aim of this study was to characterize clinical effects and biomarkers in three
patients with chronic mucocutaneous candidiasis (CMC) caused by gain-of-function (GOF) …
patients with chronic mucocutaneous candidiasis (CMC) caused by gain-of-function (GOF) …
Advances in understanding human genetic variations that influence innate immunity to fungi
RM Merkhofer, BS Klein - Frontiers in cellular and infection …, 2020 - frontiersin.org
Fungi are ubiquitous. Yet, despite our frequent exposure to commensal fungi of the normal
mammalian microbiota and environmental fungi, serious, systemic fungal infections are rare …
mammalian microbiota and environmental fungi, serious, systemic fungal infections are rare …
A review of autoimmune enteropathy and its associated syndromes
CB Chen, F Tahboub, T Plesec, M Kay… - Digestive Diseases and …, 2020 - Springer
Autoimmune enteropathy is an extremely rare condition characterized by an abnormal
intestinal immune response which typically manifests within the first 6 months of life as …
intestinal immune response which typically manifests within the first 6 months of life as …