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Three cases of autoinflammatory disease with novel NLRC4 mutations, and the first mutation reported in the CARD domain of NLRC4 associated with autoinflammatory infantile enterocolitis (AIFEC).
Pediatr Rheumatol Online J
October 2024
Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
Background: Gain of function (GOF) mutations in NOD-like receptor family CARD-containing 4 protein (NLRC4) gene induce a wide spectrum of autoinflammatory phenotypes. Currently, we categorize them into four groups: familial cold autoinflammatory syndrome (FCAS)4, autoinflammatory infantile enterocolitis (AIFEC), NLRC4-macrophage associated syndrome (MAS), and neonatal-onset multisystem inflammatory disease (NOMID). The rarity and complexity of the disease necessitate the description of new cases and a reexamination of our understanding of the condition.
View Article and Find Full Text PDFThe autoinflammation-associated NLRC4 mutation increases microbiota-independent IL-18 production but does not recapitulate human autoinflammatory symptoms in mice.
Front Immunol
December 2023
Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium.
Background: Autoinflammation with infantile enterocolitis (AIFEC) is an often fatal disease caused by gain-of-function mutations in the NLRC4 inflammasome. This inflammasomopathy is characterized by macrophage activation syndrome (MAS)-like episodes as well as neonatal-onset enterocolitis. Although elevated IL-18 levels were suggested to take part in driving AIFEC pathology, the triggers for IL-18 production and its ensuing pathogenic effects in these patients are incompletely understood.
View Article and Find Full Text PDFFighting autoinflammation in FIRES: The role of interleukins and early immunomodulation.
Epilepsy Behav Rep
February 2022
Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Roma, Italy.
Febrile infection-related epilepsy syndrome (FIRES) is a challenging condition with unfavorable outcome in most cases. Preliminary evidence suggests that some interleukins, in particular IL-1 Receptor Antagonist (IL-1RA), could be elevated due to a functional deficiency of anti-inflammatory pathways. Therefore, treatment strategies acting on innate immunity could represent a targeted treatment.
View Article and Find Full Text PDFLoss-of-function mutations in SKIV2L underlie trichohepatoenteric syndrome (THES2), a rare inborn error of immunity characterized by diarrhea, skin lesions, brittle hair, and immunodeficiency. SKIV2L is part of a multiprotein complex required for exosome-mediated RNA surveillance through RNA decay. In this issue of the JCI, Yang et al.
View Article and Find Full Text PDFExcess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.
Arthritis Rheumatol
February 2022
University of Pittsburgh and UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.
Objective: Dominantly inherited PSTPIP1 mutations cause a spectrum of autoinflammatory manifestations epitomized by PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome.). The connections between PSTPIP1 and PAPA syndrome are poorly understood, although evidence suggests involvement of pyrin inflammasome activation.
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