Results 11 to 20 of about 94,247 (290)

NOD2-associated granulomatous autoinflammatory syndromes – a short update for clinicians [PDF]

open access: yesRomanian Journal of Pediatrics, 2021
NOD2 (nucleotide-binding oligomerization domain-2), a pattern recognition receptor, is involved in innate immune defense against pathogens, intestinal mucosal barrier integrity, gut microbiota composition, autophagy, immune homeostasis and inflammation ...
Laura Damian   +7 more
doaj   +1 more source

Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant

open access: yesCase Reports in Pediatrics, 2021
Periodic fever syndromes are heterogeneous diseases. Familial Mediterranean fever (FMF) is one of the hereditary periodic fever diseases caused by a Mediterranean fever (MEFV) gene abnormality.
Tomonobu Sato   +10 more
doaj   +1 more source

Periodic fever syndromes [PDF]

open access: yesBest Practice & Research Clinical Rheumatology, 2017
Periodic fever syndromes are autoinflammatory diseases. The majority present in infancy or childhood and are characterised by recurrent episodes of fever and systemic inflammation that occur in the absence of autoantibody production or identifiable infection. The best recognised disorders include CAPS, FMF, TRAPS and MKD.
openaire   +5 more sources

A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs. [PDF]

open access: yesPLoS Genetics, 2011
Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain ...
Mia Olsson   +23 more
doaj   +1 more source

Synchronous disease onset and flares in siblings with PFAPA

open access: yesPediatric Rheumatology Online Journal, 2022
Background Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a clinical syndrome of unclear etiology. PFAPA has generally been considered a non-hereditary fever syndrome; however, this has been called into question with ...
Kristen L. Dammeyer   +3 more
doaj   +1 more source

TNFRSF1A gene variant identified in a boy with recurrent episodes of fever [PDF]

open access: yesSrpski Arhiv za Celokupno Lekarstvo, 2018
Introduction. Fever of unknown origin is an important diagnostic challenge. Although rare, periodic fever syndromes may often present with a chronic or recurrent febrile condition with a variable temporal pattern of occurrence.
Janković Srđa   +3 more
doaj   +1 more source

PFAPA syndrome: a review on treatment and outcome. [PDF]

open access: yes, 2016
The syndrome of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA syndrome) is the most common cause of periodic fever in childhood. The current pharmacological treatment includes corticosteroids, which usually are efficacious
Hofer, M.   +2 more
core   +2 more sources

A retrospective analysis of 3 156 admissions with fever of unknown origin in a large Italian hospital

open access: yesEpidemiology, Biostatistics and Public Health, 2013
Background: fever of unknown origin (FUO) is defined as a fever with no etiologic diagnosis after standardized investigations performed during 3 days in hospital or after at least 3 ambulatory visits.
Nicola Nicolotti   +5 more
doaj   +1 more source

Small Intestinal Bacterial Overgrowth Affects the Responsiveness to Colchicine in Familial Mediterranean Fever

open access: yesMediators of Inflammation, 2017
Objective. Familial Mediterranean fever (FMF) is an autosomal recessive disease due to a MEFV gene mutation. Since Helicobacter pylori infection has been described to increase the severity and frequency of FMF attacks, we evaluate if overgrowth of small ...
E. Verrecchia   +8 more
doaj   +1 more source

PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) syndrome in children; surgical versus medical treatment?

open access: yesMedicine Science, 2021
PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical lymphadenopathy) syndrome usually presents in childhood and one of the most common periodic fever syndromes.
Yuksel Toplu   +3 more
doaj   +1 more source

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