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) …

STAT3 gain-of-function syndrome

TP Vogel, JW Leiding, MA Cooper… - Frontiers in …, 2023 - frontiersin.org
STAT3 gain-of-function (GOF) syndrome is a multi-organ primary immune regulatory
disorder characterized by early onset autoimmunity. Patients present early in life, most …

The trajectory of human B‐cell function, immune deficiency, and allergy revealed by inborn errors of immunity

SG Tangye, J Mackie, K Pathmanandavel… - Immunological …, 2024 - Wiley Online Library
The essential role of B cells is to produce protective immunoglobulins (Ig) that recognize,
neutralize, and clear invading pathogens. This results from the integration of signals …

Too much of a good thing: a review of primary immune regulatory disorders

C Tsilifis, MA Slatter, AR Gennery - Frontiers in Immunology, 2023 - frontiersin.org
Primary immune regulatory disorders (PIRDs) are inborn errors of immunity caused by a loss
in the regulatory mechanism of the inflammatory or immune response, leading to impaired …

Small Molecules as Anti‐inflammatory Agents: Molecular Mechanisms and Heterocycles as Inhibitors of Signaling Pathways

NJ Basha - ChemistrySelect, 2023 - Wiley Online Library
Cancer and inflammation interlink with many pathways. Millions of people died because of
these two disorders. Major pathways that cause both inflammation and cancer are STAT3 …

Hyper‐IgE syndrome presenting with early life craniosynostosis in monozygotic twin sisters.

A Peirolo, C Verolet, E Ranza, M Rohr… - Pediatric Allergy & …, 2023 - search.ebscohost.com
Abstract Craniosynostosis, hyper-IgE syndrome, Job's syndrome Available treatments
include immunoglobulin substitution and antimicrobial prophylaxis, and also HSCT …

Approach to Diagnosing Inborn Errors of Immunity

X Peng, S Kaviany - Rheumatic Disease Clinics, 2023 - rheumatic.theclinics.com
The increasing use of molecular diagnostics has led to rapid expansion of the genotypic and
phenotypic landscape of inborn errors of immunity (IEIs). Like cancer, IEIs are proving to be …

[HTML][HTML] Extensive dental caries and periodontal disease in a child with GATA2 deficiency

F Consonni, E Gambineri, M Veltroni… - Journal of Clinical and …, 2023 - ncbi.nlm.nih.gov
Background GATA2 deficiency is an inborn error of immunity (IEI) characterized by infectious
susceptibility and increased risk of myelodysplasia leading to acute myeloid leukaemia …

Germline Mosaicism in STAT3: A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE Syndrome

Q Sabbagh, JD Cohen, J Mortreux, L Raymond… - Dermatitis®, 2023 - liebertpub.com
3. Nakagawa H, Nemoto O, Igarashi A, et al. Delgocitinib ointment, a topical Janus kinase
inhibitor, in adult patients with moderate to severe atopic dermatitis: a phase 3, randomized …

De Novo Mutations Promote Inflammation in Children with Stat3 Gain-of-Functionsyndrome by Affecting Il-1β Expression

J Chen, Y Li, Z Zhou, XM Jiang, X Bi… - Available at SSRN …, 2024 - papers.ssrn.com
Abstract STAT3 Gain-of-Function (GOF) syndrome characterized by early onset
autoimmunity and primary immune regulatory disorder, the immunological mechanisms …