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Proposed refined diagnostic criteria and classification of eosinophil disorders and related syndromes
Eosinophilia and eosinophil activation are recurrent features in various reactive states and
certain hematologic malignancies. In patients with hypereosinophilia (HE), HE‐induced …
certain hematologic malignancies. In patients with hypereosinophilia (HE), HE‐induced …
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 …
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 …
STAT5b: a master regulator of key biological pathways
MR Smith, LRF Satter… - Frontiers in immunology, 2023 - frontiersin.org
The Signal Transducer and Activator of Transcription (STAT)-5 proteins are required in
immune regulation and homeostasis and play a crucial role in the development and function …
immune regulation and homeostasis and play a crucial role in the development and function …
Complex autoinflammatory syndrome unveils fundamental principles of JAK1 kinase transcriptional and biochemical function
Autoinflammatory disease can result from monogenic errors of immunity. We describe a
patient with early-onset multi-organ immune dysregulation resulting from a mosaic, gain-of …
patient with early-onset multi-organ immune dysregulation resulting from a mosaic, gain-of …
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
M Fischer, P Olbrich, J Hadjadj, V Aumann… - Journal of Allergy and …, 2024 - Elsevier
Background Inborn errors of immunity (IEI) with dysregulated JAK/STAT signaling present
with variable manifestations of immune dysregulation and infections. Hematopoietic stem …
with variable manifestations of immune dysregulation and infections. Hematopoietic stem …
The ups and downs of STAT3 function: too much, too little and human immune dysregulation
The STAT3 story has almost 30 years of evolving history. First identified in 1994 as a pro-
inflammatory transcription factor, Signal Transducer and Activator of Transcription 3 (STAT3) …
inflammatory transcription factor, Signal Transducer and Activator of Transcription 3 (STAT3) …
Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond
Signal transducer and activator of transcription (STAT)-6 is a transcription factor central to
pro-allergic immune responses, although the function of human STAT6 at the whole …
pro-allergic immune responses, although the function of human STAT6 at the whole …
Incomplete penetrance in primary immunodeficiency: a skeleton in the closet
Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders
that result in clinically apparent immune dysfunction. Although PIDs are classically …
that result in clinically apparent immune dysfunction. Although PIDs are classically …
Structural and functional consequences of the STAT5BN642H driver mutation
Hyper-activated STAT5B variants are high value oncology targets for pharmacologic
intervention. STAT5BN642H, a frequently-occurring oncogenic driver mutation, promotes …
intervention. STAT5BN642H, a frequently-occurring oncogenic driver mutation, promotes …