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 …

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 …

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 …

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 …

[HTML][HTML] A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation

CT Chear, R Nallusamy, SW Canna, KC Chan… - Clinical …, 2020 - Elsevier
Autoinflammatory disorders are characterized by dysregulated innate immune response,
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) …

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 …

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 …

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 …

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

SW Canna, AA de Jesus, S Gouni, SR Brooks… - Nature …, 2014 - nature.com
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 …