NLRC4 GOF mutations, a challenging diagnosis from neonatal age to adulthood
J Bardet, N Laverdure, M Fusaro, C Picard… - Journal of clinical …, 2021 - mdpi.com
The NLRC4 inflammasome is part of the human immune innate system. Its activation leads
to the cleavage of pro-inflammatory cytokines IL-1β and IL-18, promoting inflammation …
to the cleavage of pro-inflammatory cytokines IL-1β and IL-18, promoting inflammation …
Rapamycin as an adjunctive therapy for NLRC4 associated macrophage activation syndrome
J Barsalou, A Blincoe, I Fernandez… - Frontiers in …, 2018 - frontiersin.org
Gain of function (GOF) mutations affecting the inflammasome component NLRC4 are known
to cause early-onset macrophage activation syndrome (MAS) and neonatal enterocolitis …
to cause early-onset macrophage activation syndrome (MAS) and neonatal enterocolitis …
A Novel Mutation in the NBD Domain of NLRC4 Causes Mild Autoinflammation With Recurrent Urticaria
L Wang, W Wen, M Deng, Y Li, G Sun, X Zhao… - Frontiers in …, 2021 - frontiersin.org
Background NOD-like receptor family CARD-containing 4 protein (NLRC4) is a cytosolic
protein that forms an inflammasome in response to flagellin and type 3 secretion system …
protein that forms an inflammasome in response to flagellin and type 3 secretion system …
NLRC4 biology in immunity and inflammation
WA Andrade, DS Zamboni - Journal of Leucocyte Biology, 2020 - academic.oup.com
Inflammasomes are cytosolic multiprotein complexes that sense microbial infections or host
cell damage, triggering cytokine production and a proinflammatory form of cell death, called …
cell damage, triggering cytokine production and a proinflammatory form of cell death, called …
[HTML][HTML] A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation
Autoinflammatory disorders are characterized by dysregulated innate immune response,
resulting in recurrent uncontrolled systemic inflammation and fever. Gain-of-function …
resulting in recurrent uncontrolled systemic inflammation and fever. Gain-of-function …
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
N Romberg, K Al Moussawi, C Nelson-Williams… - Nature …, 2014 - nature.com
Upon detection of pathogen-associated molecular patterns, innate immune receptors initiate
inflammatory responses. These receptors include cytoplasmic NOD-like receptors (NLRs) …
inflammatory responses. These receptors include cytoplasmic NOD-like receptors (NLRs) …
Increased Prevalence of NLRP3 Q703K Variant Among Patients With Autoinflammatory Diseases: An International Multicentric Study
K Theodoropoulou, H Wittkowski, N Busso… - Frontiers in …, 2020 - frontiersin.org
Background: The NLRP3 inflammasome has been recognized as one of the key
components of innate immunity. Gain-of-function mutations in the exon 3 of NLRP3 gene …
components of innate immunity. Gain-of-function mutations in the exon 3 of NLRP3 gene …
Excessive deubiquitination of NLRP3-R779C variant contributes to very-early-onset inflammatory bowel disease development
L Zhou, T Liu, B Huang, M Luo, Z Chen, Z Zhao… - Journal of Allergy and …, 2021 - Elsevier
Background Very-early-onset inflammatory bowel disease (VEOIBD) is a chronic
inflammatory disease of the gastrointestinal tract occurring during infancy or early childhood …
inflammatory disease of the gastrointestinal tract occurring during infancy or early childhood …
NLRC4 gets out of control
HJ Khameneh, A Mortellaro - Nature Genetics, 2014 - nature.com
The NLRC4 inflammasome mediates the rapid release of proinflammatory cytokines in
response to various microbial stimuli, but its role in the pathology of human diseases …
response to various microbial stimuli, but its role in the pathology of human diseases …
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
Inflammasomes are innate immune sensors that respond to pathogen-and damage-
associated signals with caspase-1 activation, interleukin (IL)-1β and IL-18 secretion, and …
associated signals with caspase-1 activation, interleukin (IL)-1β and IL-18 secretion, and …