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1 of a functional NLRP12 protein to hereditary periodic fever.
2 antly inherited syndrome designated familial periodic fever.
3 ferent red blood cells which is reflected in periodic fevers.
4 r (FMF) are both characterized by attacks of periodic fever accompanied by acute phase responses that
6 criptive studies on clinical presentation of periodic fever and outcomes associated with and without
7 d by sideroblastic anemia, immunodeficiency, periodic fever, and developmental delay with an uncharac
8 rome featuring neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of auto
11 in 2 of the 50 subjects with uncharacterized periodic fevers, and in 1 of 130 Caucasian and 2 of 48 I
13 ular periodicity: cyclic neutropenia and the periodic fever, aphthous stomatitis, pharyngitis, and ad
17 exact pathogenesis of the pediatric disorder periodic fever, aphthous stomatitis, pharyngitis, cervic
19 nd molecular bases of all autosomal dominant periodic fevers are unknown, and only familial Hibernian
20 ent background, that have autosomal dominant periodic fever, as a prelude to identification of the FH
21 equency of P46L and R92Q among patients with periodic fever, as well as functional studies of TNFRSF1
22 inding domain are associated with hereditary periodic fevers characterized by constitutive IL-1beta p
23 lammation in mevalonate kinase deficiency, a periodic fever disease characterized by a block in isopr
27 ts whose genetic testing excluded hereditary periodic fevers (HPFs), and from healthy children and pe
28 entified a TNFRSF1A mutation associated with periodic fever in an Arab patient, and a TNFRSF1A varian
29 R linked to atopic dermatitis and hereditary periodic fever in humans, is prominently expressed in de
30 is the first report of a de novo mutation in periodic fevers in general, and also of TRAPS in the Ara
33 6p by positional cloning, and a second major periodic fever locus was mapped to distal chromosome 12p
34 basophils in autoinflammatory syndromes with periodic fever, our data indicate that IgD orchestrates
35 d susceptible ethnicities for the hereditary periodic fever subset of the autoinflammatory diseases h
37 drives inflammation in cryopyrin-associated periodic fever syndrome (CAPS) caused by mutations in NL
39 ome 16p13, the hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) locus on chromosome 12q24
43 stigation for hyperimmunoglobulinemia D with periodic fever syndrome and pyogenic sterile arthritis,
44 RIPK1 in humans and result in an early-onset periodic fever syndrome and severe intermittent lymphade
45 (FMF) and the hyperimmunoglobulinemia D and periodic fever syndrome are both recessively inherited,
50 to chromosome 1q44, is an autosomal-dominant periodic fever syndrome with a similar phenotype except
51 syndrome, and hyperimmunoglobulinemia D with periodic fever syndrome) and additional immune dysregula
52 syndrome, the hyperimmunoglobulinemia D with periodic fever syndrome, and cryopyrin-associated period
53 ), a key regulator of inflammation, define a periodic-fever syndrome, TRAPS (TNF receptor-associated
54 ory diseases as well as cryopyrin-associated periodic fever syndromes (CAPS) caused by inherited NLRP
55 y syndromes including the classic hereditary periodic fever syndromes (familial Mediterranean fever,
56 e-threatening complication of the hereditary periodic fever syndromes (HPFS), which are otherwise oft
59 mily of gene 12 (Nlrp12) are associated with periodic fever syndromes and atopic dermatitis in humans
60 nical therapies for a spectrum of hereditary periodic fever syndromes and potentially for some metabo
61 ath, and inflammatory pathologies, including periodic fever syndromes and septic shock-a plague on mo
65 enic autoinflammatory diseases, ranging from periodic fever syndromes caused by dysregulated inflamma
66 rom LPS-primed PBMCs of cryopyrin-associated periodic fever syndromes patients was substantially redu
67 n-of-function point mutations cause systemic periodic fever syndromes that are collectively known as
68 ts with uncharacterized, apparently sporadic periodic fever syndromes, 48 subjects with rheumatoid ar
69 etween recurrent idiopathic pericarditis and periodic fever syndromes, disorders of the inflammasome
77 gorithm for the evaluation of a patient with periodic fever, taking into account the patient's age, e
78 Malaria infection is often accompanied by periodic fevers, triggered by synchronous cycles of para
79 ong 150 additional patients with unexplained periodic fevers, we have identified four novel TNFRSF1A
80 ing numbers of patients with intermittent or periodic fevers who face unnecessary morbidities due to
82 nse mutation in WDR1 in two siblings causing periodic fevers with immunodeficiency and thrombocytopen