Proposed refined diagnostic criteria and classification of eosinophil disorders and related syndromes

P Valent, AD Klion, F Roufosse, D Simon… - Allergy, 2023 - Wiley Online Library
Eosinophilia and eosinophil activation are recurrent features in various reactive states and
certain hematologic malignancies. In patients with hypereosinophilia (HE), HE‐induced …

JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition

Y Luo, M Alexander, M Gadina, JJ O'Shea… - Journal of Allergy and …, 2021 - Elsevier
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 …

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

M Sharma, D Leung, M Momenilandi… - Journal of Experimental …, 2023 - rupress.org
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 …

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 …

Complex autoinflammatory syndrome unveils fundamental principles of JAK1 kinase transcriptional and biochemical function

CN Gruber, JJA Calis, S Buta, G Evrony, JC Martin… - Immunity, 2020 - cell.com
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 …

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 …

The ups and downs of STAT3 function: too much, too little and human immune dysregulation

J Mackie, CS Ma, SG Tangye… - Clinical and experimental …, 2023 - academic.oup.com
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) …

Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond

M Sharma, N Suratannon, D Leung, S Baris… - Trends in …, 2024 - cell.com
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 …

Incomplete penetrance in primary immunodeficiency: a skeleton in the closet

C Gruber, D Bogunovic - Human genetics, 2020 - Springer
Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders
that result in clinically apparent immune dysfunction. Although PIDs are classically …

Structural and functional consequences of the STAT5BN642H driver mutation

ED de Araujo, F Erdogan, HA Neubauer… - Nature …, 2019 - nature.com
Hyper-activated STAT5B variants are high value oncology targets for pharmacologic
intervention. STAT5BN642H, a frequently-occurring oncogenic driver mutation, promotes …