Role of JAK/STAT in interstitial lung diseases; molecular and cellular mechanisms
P Montero, J Milara, I Roger, J Cortijo - International journal of molecular …, 2021 - mdpi.com
Interstitial lung diseases (ILDs) comprise different fibrotic lung disorders characterized by
cellular proliferation, interstitial inflammation, and fibrosis. The JAK/STAT molecular pathway …
cellular proliferation, interstitial inflammation, and fibrosis. The JAK/STAT molecular pathway …
New insights into IL-6 family cytokines in metabolism, hepatology and gastroenterology
MD Giraldez, D Carneros, C Garbers… - Nature reviews …, 2021 - nature.com
IL-6 family cytokines are defined by the common use of the signal-transducing receptor
chain glycoprotein 130 (gp130). Increasing evidence indicates that these cytokines are …
chain glycoprotein 130 (gp130). Increasing evidence indicates that these cytokines are …
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child
The pathophysiology of adverse events following programmed cell death protein 1 (PD-1)
blockade, including tuberculosis (TB) and autoimmunity, remains poorly characterized. We …
blockade, including tuberculosis (TB) and autoimmunity, remains poorly characterized. We …
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a
central role in the pathophysiology of allergic inflammation. We have identified 16 patients …
central role in the pathophysiology of allergic inflammation. We have identified 16 patients …
Autoimmunity in Down's syndrome via cytokines, CD4 T cells and CD11c+ B cells
Down's syndrome (DS) presents with a constellation of cardiac, neurocognitive and growth
impairments. Individuals with DS are also prone to severe infections and autoimmunity …
impairments. Individuals with DS are also prone to severe infections and autoimmunity …
JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition
Since its discovery, the Janus kinase-signal transduction and activation of transcription (JAK-
STAT) pathway has become recognized as a central mediator of widespread and varied …
STAT) pathway has become recognized as a central mediator of widespread and varied …
[HTML][HTML] STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation
The association between cancer and autoimmune disease is unexplained, exemplified by T
cell large granular lymphocytic leukemia (T-LGL) where gain-of-function (GOF) somatic …
cell large granular lymphocytic leukemia (T-LGL) where gain-of-function (GOF) somatic …
Non-infectious complications of common variable immunodeficiency: updated clinical spectrum, sequelae, and insights to pathogenesis
H Ho, C Cunningham-Rundles - Frontiers in immunology, 2020 - frontiersin.org
Non-infectious complications in common variable immunodeficiency (CVID) have emerged
as a major clinical challenge. Detailed clinical spectrum, organ-specific pathologies and …
as a major clinical challenge. Detailed clinical spectrum, organ-specific pathologies and …
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
JW Leiding, TP Vogel, VGJ Santarlas… - Journal of allergy and …, 2023 - Elsevier
Background In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-
of-function (GOF) mutations were first described to cause a novel multisystem disease of …
of-function (GOF) mutations were first described to cause a novel multisystem disease of …
Clinical genomics for the diagnosis of monogenic forms of inflammatory bowel disease: a position paper from the Paediatric IBD Porto Group of European Society of …
HH Uhlig, F Charbit-Henrion, D Kotlarz… - Journal of pediatric …, 2021 - journals.lww.com
Background: It is important to identify patients with monogenic IBD as management may
differ from classical IBD. In this position statement we formulate recommendations for the …
differ from classical IBD. In this position statement we formulate recommendations for the …