Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. Masters, S., Lagou, V., Jéru, I., Baker, P., Van Eyck, L., Parry, D., Lawless, D., De Nardo, D., Garcia-Perez, J., Dagley, L., Holley, C., Dooley, J., Moghaddas, F., Pasciuto, E., Jeandel, P., Sciot, R., Lyras, D., Webb, A., Nicholson, S., De Somer, L., Van Nieuwenhove, E., Ruuth-Praz, J., Copin, B., Cochet, E., Medlej-Hashim, M., Megarbane, A., Schroder, K., Savic, S., Goris, A., Amselem, S., Wouters, C., & Liston, A. Science Translational Medicine, 2016.
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation [link]Paper  abstract   bibtex   
Pyrin responds to pathogen signals and loss of cellular homeostasis by forming an inflammasome complex that drives the cleavage and secretion of interleukin-1β (IL-1β). Mutations in the B30.2/SPRY domain cause pathogen-independent activation of pyrin and are responsible for the autoinflammatory disease familial Mediterranean fever (FMF). We studied a family with a dominantly inherited autoinflammatory disease, distinct from FMF, characterized by childhood-onset recurrent episodes of neutrophilic dermatosis, fever, elevated acute-phase reactants, arthralgia, and myalgia/myositis. The disease was caused by a mutation in MEFV, the gene encoding pyrin (S242R). The mutation results in the loss of a 14-3-3 binding motif at phosphorylated S242, which was not perturbed by FMF mutations in the B30.2/SPRY domain. However, loss of both S242 phosphorylation and 14-3-3 binding was observed for bacterial effectors that activate the pyrin inflammasome, such as Clostridium difficile toxin B (TcdB). The S242R mutation thus recapitulated the effect of pathogen sensing, triggering inflammasome activation and IL-1β production. Successful therapy targeting IL-1b has been initiated in one patient, resolving pyrin-associated autoinflammation with neutrophilic dermatosis. This disease provides evidence that a guard-like mechanism of pyrin regulation, originally identified for Nod-like receptors in plant innate immunity, also exists in humans.
@article{masters_familial_2016,
	title = {Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation},
	volume = {8},
	issn = {1946-6242},
	url = {http://www.embase.com/search/results?subaction=viewrecord&from=export&id=L609695538},
	abstract = {Pyrin responds to pathogen signals and loss of cellular homeostasis by forming an inflammasome complex that drives the cleavage and secretion of interleukin-1β (IL-1β). Mutations in the B30.2/SPRY domain cause pathogen-independent activation of pyrin and are responsible for the autoinflammatory disease familial Mediterranean fever (FMF). We studied a family with a dominantly inherited autoinflammatory disease, distinct from FMF, characterized by childhood-onset recurrent episodes of neutrophilic dermatosis, fever, elevated acute-phase reactants, arthralgia, and myalgia/myositis. The disease was caused by a mutation in MEFV, the gene encoding pyrin (S242R). The mutation results in the loss of a 14-3-3 binding motif at phosphorylated S242, which was not perturbed by FMF mutations in the B30.2/SPRY domain. However, loss of both S242 phosphorylation and 14-3-3 binding was observed for bacterial effectors that activate the pyrin inflammasome, such as Clostridium difficile toxin B (TcdB). The S242R mutation thus recapitulated the effect of pathogen sensing, triggering inflammasome activation and IL-1β production. Successful therapy targeting IL-1b has been initiated in one patient, resolving pyrin-associated autoinflammation with neutrophilic dermatosis. This disease provides evidence that a guard-like mechanism of pyrin regulation, originally identified for Nod-like receptors in plant innate immunity, also exists in humans.},
	number = {332},
	journal = {Science Translational Medicine},
	author = {Masters, S.L. and Lagou, V. and Jéru, I. and Baker, P.J. and Van Eyck, L. and Parry, D.A. and Lawless, D. and De Nardo, D. and Garcia-Perez, J.E. and Dagley, L.F. and Holley, C.L. and Dooley, J. and Moghaddas, F. and Pasciuto, E. and Jeandel, P.-Y. and Sciot, R. and Lyras, D. and Webb, A.I. and Nicholson, S.E. and De Somer, L. and Van Nieuwenhove, E. and Ruuth-Praz, J. and Copin, B. and Cochet, E. and Medlej-Hashim, M. and Megarbane, A. and Schroder, K. and Savic, S. and Goris, A. and Amselem, S. and Wouters, C. and Liston, A.},
	year = {2016},
	keywords = {Belgian, Clostridium difficile toxin B, MEFV gene, acne, acute phase protein, amino acid substitution, arthralgia, article, autoinflammatory disease, chromosome 16, clinical article, controlled study, cytokine production, female, fever, gene, human, human cell, human tissue, inflammasome, interleukin 1beta, linkage analysis, male, missense mutation, myalgia, myositis, neutrophilia, neutrophilic dermatosis, nucleic acid base substitution, pedigree analysis, priority journal, protein 14 3 3, protein phosphorylation, pyoderma gangrenosum, pyrin associated autoinflammation with neutrophilic dermatosis, pyrin protein, regulatory mechanism, sequence analysis, skin abscess, skin disease, small vessel vasculitis, unclassified drug}
}
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