scholarly journals NLRP12-associated hereditary periodic fever syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Hereditary Periodic Fever ◽  
Hereditary Periodic Fever Syndrome

Defective apoptosis of peripheral-blood lymphocytes in hyper-IgD and periodic fever syndrome

Blood ◽  
2006 ◽  
Vol 109 (6) ◽  
pp. 2416-2418 ◽  
Author(s):  
Evelien J. Bodar ◽  
Jeroen C.H. van der Hilst ◽  
Waander van Heerde ◽  
Jos W. M. van der Meer ◽  
Joost P. H. Drenth ◽  
...  
Keyword(s):  
Peripheral Blood ◽  
Periodic Fever ◽  
Annexin V ◽  
Peripheral Blood Lymphocytes ◽  
Periodic Fever Syndrome ◽  
Blood Lymphocytes ◽  
Inhibitory Mechanisms ◽  
Hereditary Periodic Fever ◽  
Fever Syndromes ◽  
Induced Apoptosis

Abstract Hereditary periodic fever syndromes are characterized by incapacitating attacks of fever and generalized inflammation. While the mutated genes for the major syndromes in this group are known, the pathogenesis remains unclear. The aim of this study was to investigate apoptosis in patients with periodic fever as a possible pathogenic factor. We measured anisomycin-induced apoptosis with annexin-V flow cytometry and caspase-3/7 activity in peripheral-blood lymphocytes from symptom-free patients with hyper-IgD and periodic fever syndrome (HIDS; n = 10), TNF-receptor–associated periodic syndrome (TRAPS; n = 7), and familial Mediterranean fever (FMF; n = 2). HIDS lymphocytes showed a decreased percentage of apoptosis during remission by both methods compared with controls (17.8% vs 55.4%), whereas no difference was observed in TRAPS or FMF lymphocytes. This defective apoptosis of lymphocytes may be a central pathogenic mechanism in HIDS, since dysfunction of one of the inhibitory mechanisms to curtail the immunologic response could cause an unbridled generalized inflammation after a trivial stimulus.

Hereditary Periodic Fever Syndromes

Hematology ◽  
2005 ◽  
Vol 2005 (1) ◽  
pp. 74-81 ◽  
Author(s):  
Daniel L. Kastner
Keyword(s):  
Innate Immunity ◽  
Rational Design ◽  
Mevalonate Pathway ◽  
Periodic Fever ◽  
Large Family ◽  
Macromolecular Complex ◽  
Periodic Fever Syndrome ◽  
Inborn Errors ◽  
Hereditary Periodic Fever ◽  
Fever Syndromes

Abstract The hereditary periodic fevers are a group of Mendelian disorders characterized by seemingly unprovoked fever and localized inflammation. Recent data indicate that these illnesses represent inborn errors in the regulation of innate immunity. Pyrin, the protein mutated in familial Mediterranean fever, defines an N-terminal domain found in a large family of proteins involved in inflammation and apoptosis. Through this domain pyrin may play a role in the regulation of interleukin (IL)-1β, nuclear factor (NF)-κB, and leukocyte apoptosis. Cryopyrin/NALP3, another protein in this family, is mutated in three other hereditary febrile syndromes and participates in the inflammasome, a newly recognized macromolecular complex crucial to IL-1β activation. Somewhat unexpectedly, mutations in the 55 kDa receptor for tumor necrosis factor also give rise to a dominantly inherited periodic fever syndrome, rather than immunodeficiency, a finding that has stimulated important investigations into both pathogenesis and treatment. Finally, the discovery of the genetic basis of the hyperimmunoglobulinemia D with periodic fever syndrome suggests an as yet incompletely understood connection between the mevalonate pathway and the regulation of cytokine production. These insights extend our understanding of the regulation of innate immunity in man, while providing the conceptual basis for the rational design of targeted therapies, both for the hereditary periodic fevers themselves and other inflammatory disorders as well.

scholarly journals A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs

PLoS Genetics ◽  
2011 ◽  
Vol 7 (3) ◽  
pp. e1001332 ◽  
Author(s):  
Mia Olsson ◽  
Jennifer R. S. Meadows ◽  
Katarina Truvé ◽  
Gerli Rosengren Pielberg ◽  
Francesca Puppo ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome

Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre

2021 ◽  
Author(s):  
Peter McNaughton ◽  
Sophie Willcocks ◽  
Su Han Lum ◽  
Ben Whitehead ◽  
Jane Peake ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Tertiary Centre

AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: A report of two cases

2006 ◽  
Vol 54 (6) ◽  
pp. 2010-2014 ◽  
Author(s):  
Helen J. Lachmann ◽  
Hugh J. B. Goodman ◽  
Peter A. Andrews ◽  
Hugh Gallagher ◽  
James Marsh ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Aa Amyloidosis
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