Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies
B Lin, R Goldbach-Mansky - Journal of Allergy and Clinical Immunology, 2022 - Elsevier
A number of systemic autoinflammatory diseases arise from gain-of-function mutations in
genes encoding IL-1–activating inflammasomes or cytoplasmic nucleic acid sensors …
genes encoding IL-1–activating inflammasomes or cytoplasmic nucleic acid sensors …
Systemic lupus erythematosus as a genetic disease
ITW Harley, AH Sawalha - Clinical Immunology, 2022 - Elsevier
Systemic lupus erythematosus is the prototypical systemic autoimmune disease, as it is
characterized both by protean multi-organ system manifestations and by the uniform …
characterized both by protean multi-organ system manifestations and by the uniform …
RELA tunes innate-like interferon I/III responses in human T cells
N Jeremiah, H Ferran, K Antoniadou… - Journal of Experimental …, 2023 - rupress.org
In innate immune cells, intracellular sensors such as cGAS-STING stimulate type I/III
interferon (IFN) expression, which promotes antiviral defense and immune activation …
interferon (IFN) expression, which promotes antiviral defense and immune activation …
How to treat monogenic SLE?
J Thuner, J Cognard, A Belot - Best Practice & Research Clinical …, 2024 - Elsevier
Systemic lupus erythematosus is a rare and life-threatening autoimmune disease
characterized by autoantibodies against double-stranded DNA, with an immunopathology …
characterized by autoantibodies against double-stranded DNA, with an immunopathology …
Case report: Novel variants in RELA associated with familial Behcet's-like disease
JW An, P Pimpale-Chavan, DL Stone… - Frontiers in …, 2023 - frontiersin.org
RELA haploinsufficiency is a recently described autoinflammatory condition presenting with
intermittent fevers and mucocutaneous ulcerations. The RELA gene encodes the p65 …
intermittent fevers and mucocutaneous ulcerations. The RELA gene encodes the p65 …
Targeting IRAK4 with emavusertib in lymphoma models with secondary resistance to PI3K and BTK inhibitors
Inhibitors of phosphatidylinositol 3-kinase (PI3K) and Bruton tyrosine kinase (BTK) represent
a recognized option for the treatment of patients affected by indolent B cell lymphomas …
a recognized option for the treatment of patients affected by indolent B cell lymphomas …
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant
K Lecerf, DC Koboldt, HS Kuehn, V Jayaraman… - …, 2023 - academic.oup.com
Objective To explore and define the molecular cause (s) of a multi-generational kindred
affected by Bechet's-like mucocutaneous ulcerations and immune dysregulation. Methods …
affected by Bechet's-like mucocutaneous ulcerations and immune dysregulation. Methods …
Régulation de la biologie des Lymphocytes T CD4+ conventionnels par les facteurs de transcription NF-κB
G Lalle - 2022 - theses.hal.science
Les lymphocytes T CD4+ conventionnels (Tconv) sont des acteurs centraux de la réponse
immunitaire. En fonction des agents pathogènes et du contexte inflammatoire, les Tconv …
immunitaire. En fonction des agents pathogènes et du contexte inflammatoire, les Tconv …