ライフサイエンスコーパス: periodic fever

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

5 e clinician to better approach patients with periodic fever and inflammation.

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

9 p of CSA associated with B immunodeficiency, periodic fevers, and development delay.

10 CSA associated with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).

11 in 2 of the 50 subjects with uncharacterized periodic fevers, and in 1 of 130 Caucasian and 2 of 48 I

12 ular periodicity: cyclic neutropenia and the periodic fever, aphthous stomatitis, pharyngitis, and ad

13 The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and ce

14 A new periodic fever syndrome PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and ce

15 exact pathogenesis of the pediatric disorder periodic fever, aphthous stomatitis, pharyngitis, cervic

16 Autosomal dominant periodic fevers are characterized by intermittent febril

17 nd molecular bases of all autosomal dominant periodic fevers are unknown, and only familial Hibernian

18 ent background, that have autosomal dominant periodic fever, as a prelude to identification of the FH

19 equency of P46L and R92Q among patients with periodic fever, as well as functional studies of TNFRSF1

20 inding domain are associated with hereditary periodic fevers characterized by constitutive IL-1beta p

21 lammation in mevalonate kinase deficiency, a periodic fever disease characterized by a block in isopr

22 cervical adenitis (PFAPA) is the most common periodic fever disease in children.

23 Periodic fevers (fevers that occur predictably at fixed

24 The molecular characterization of the periodic fever genes should provide important new insigh

25 ts whose genetic testing excluded hereditary periodic fevers (HPFs), and from healthy children and pe

26 entified a TNFRSF1A mutation associated with periodic fever in an Arab patient, and a TNFRSF1A varian

27 R linked to atopic dermatitis and hereditary periodic fever in humans, is prominently expressed in de

28 is the first report of a de novo mutation in periodic fevers in general, and also of TRAPS in the Ara

29 The second periodic fever locus was mapped by two different groups:

30 6p by positional cloning, and a second major periodic fever locus was mapped to distal chromosome 12p

31 basophils in autoinflammatory syndromes with periodic fever, our data indicate that IgD orchestrates

32 d susceptible ethnicities for the hereditary periodic fever subset of the autoinflammatory diseases h

33 Markers from known periodic fever susceptibility loci were investigated in

34 The hyper-IgD and periodic fever syndrome (HIDS) and familial Mediterranea

35 ome 16p13, the hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) locus on chromosome 12q24

36 occurrence in hyperimmunoglobulinemia D with periodic fever syndrome (HIDS).

37 lonic aciduria and hyperimmunoglobulinemia D/periodic fever syndrome (HIDS).

38 The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM 260920) is caused by

39 stigation for hyperimmunoglobulinemia D with periodic fever syndrome and pyogenic sterile arthritis,

40 (FMF) and the hyperimmunoglobulinemia D and periodic fever syndrome are both recessively inherited,

41 The term periodic fever syndrome has been used in a restricted se

42 The classic periodic fever syndrome is cyclic neutropenia (neutropen

43 A new periodic fever syndrome PFAPA (periodic fever, aphthous

44 to chromosome 1q44, is an autosomal-dominant periodic fever syndrome with a similar phenotype except

45 syndrome, and hyperimmunoglobulinemia D with periodic fever syndrome) and additional immune dysregula

46 syndrome, the hyperimmunoglobulinemia D with periodic fever syndrome, and cryopyrin-associated period

47 ), a key regulator of inflammation, define a periodic-fever syndrome, TRAPS (TNF receptor-associated

48 ory diseases as well as cryopyrin-associated periodic fever syndromes (CAPS) caused by inherited NLRP

49 y syndromes including the classic hereditary periodic fever syndromes (familial Mediterranean fever,

50 e-threatening complication of the hereditary periodic fever syndromes (HPFS), which are otherwise oft

51 The spectrum of periodic fever syndromes (PFS)/autoinflammation diseases

52 Periodic fever syndromes (PFSs) comprise a subset of the

53 mily of gene 12 (Nlrp12) are associated with periodic fever syndromes and atopic dermatitis in humans

54 nical therapies for a spectrum of hereditary periodic fever syndromes and potentially for some metabo

55 The hereditary periodic fever syndromes are a group of Mendelian disord

56 Autosomal dominant periodic fever syndromes are characterized by unexplaine

57 Most hereditary periodic fever syndromes are mediated by deregulated IL-

58 enic autoinflammatory diseases, ranging from periodic fever syndromes caused by dysregulated inflamma

59 rom LPS-primed PBMCs of cryopyrin-associated periodic fever syndromes patients was substantially redu

60 ts with uncharacterized, apparently sporadic periodic fever syndromes, 48 subjects with rheumatoid ar

61 etween recurrent idiopathic pericarditis and periodic fever syndromes, disorders of the inflammasome

62 s should become familiar with the variety of periodic fever syndromes.

63 neurodegeneration, and genetically inherited periodic fever syndromes.

64 ification of the genes underlying hereditary periodic fever syndromes.

65 specific T cells, and include the hereditary periodic fever syndromes.

66 tients with inherited or apparently sporadic periodic fever syndromes.

67 gesting further genetic heterogeneity of the periodic-fever syndromes.

68 gorithm for the evaluation of a patient with periodic fever, taking into account the patient's age, e

69 ong 150 additional patients with unexplained periodic fevers, we have identified four novel TNFRSF1A

70 Periodic fever with aphthous stomatitis, pharyngitis, an

71 nse mutation in WDR1 in two siblings causing periodic fevers with immunodeficiency and thrombocytopen