How to build a fire: the genetics of autoinflammatory diseases
J Zhang, PY Lee, I Aksentijevich… - Annual Review of …, 2023 - annualreviews.org
Systemic autoinflammatory diseases (SAIDs) are a heterogeneous group of disorders
caused by excess activation of the innate immune system in an antigen-independent …
caused by excess activation of the innate immune system in an antigen-independent …
JAK-STAT signaling in inflammation and stress-related diseases: implications for therapeutic interventions
A Sarapultsev, E Gusev, M Komelkova, I Utepova… - Molecular …, 2023 - Springer
The Janus kinase-signal transducer and transcription activator pathway (JAK-STAT) serves
as a cornerstone in cellular signaling, regulating physiological and pathological processes …
as a cornerstone in cellular signaling, regulating physiological and pathological processes …
[HTML][HTML] Pansclerotic morphea is characterized by IFN-γ responses priming dendritic cell fibroblast crosstalk to promote fibrosis
Pansclerotic morphea (PSM) is a rare, devastating disease characterized by extensive soft
tissue fibrosis, secondary contractions, and significant morbidity. PSM pathogenesis is …
tissue fibrosis, secondary contractions, and significant morbidity. PSM pathogenesis is …
Genetic approaches to study rheumatic diseases and its implications in clinical practice
D Rowczenio, I Aksentijevich - Arthritis & Rheumatology, 2024 - Wiley Online Library
Patients with rare and complex rheumatic diseases (RDs) present with immense clinical
variability inherent to all immunologic diseases. In addition to systemic and organ‐specific …
variability inherent to all immunologic diseases. In addition to systemic and organ‐specific …
The past 25 years in paediatric rheumatology: insights from monogenic diseases
S Ozen, I Aksentijevich - Nature Reviews Rheumatology, 2024 - nature.com
The past 25 years have seen major novel developments in the field of paediatric
rheumatology. The concept of autoinflammation was introduced to this field, and medicine …
rheumatology. The concept of autoinflammation was introduced to this field, and medicine …
Interplay between epigenetic and genetic alterations in inborn errors of immunity
J Rodríguez-Ubreva, CL Calvillo, LRF Satter… - Trends in …, 2023 - cell.com
Inborn errors of immunity (IEIs) comprise a variety of immune conditions leading to
infections, autoimmunity, allergy, and cancer. Some IEIs have no identified mutation (s) …
infections, autoimmunity, allergy, and cancer. Some IEIs have no identified mutation (s) …
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 …
Resource allocation in mammalian systems
HM Baghdassarian, NE Lewis - Biotechnology Advances, 2024 - Elsevier
Cells execute biological functions to support phenotypes such as growth, migration, and
secretion. Complementarily, each function of a cell has resource costs that constrain …
secretion. Complementarily, each function of a cell has resource costs that constrain …
Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond
STAT6 Gain-of-Function International Consortium - Trends in …, 2024 - Elsevier
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 …
[PDF][PDF] Unraveling the immunogenetics of STAT proteins: Clinical perspectives on gain-of-function and loss-of-function variants
K Meesilpavikkai, N Hirankarn… - Asian Pacific Journal …, 2024 - apjai-journal.org
Abstract Signal Transducer and Activator of Transcription (STAT) proteins play pivotal roles
in immune regulation. The dysregulation of these proteins, attributed to both gain-of-function …
in immune regulation. The dysregulation of these proteins, attributed to both gain-of-function …