Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.

Alleles Behcet Syndrome / genetics Child Cohort Studies Fever / genetics Genes, MHC Class I / genetics Genes, MHC Class II / genetics Genetic Loci / immunology Genetic Predisposition to Disease Humans Lymphadenitis / genetics Pharyngitis / genetics Polymorphism, Single Nucleotide Risk Factors Stomatitis, Aphthous / genetics Syndrome

Behçet’s disease PFAPA aphthous ulcers periodic fever tonsillitis

Journal

Proceedings of the National Academy of Sciences of the United States of America

ISSN: 1091-6490

Titre abrégé: Proc Natl Acad Sci U S A

Pays: United States

ID NLM: 7505876

Informations de publication

Date de publication:
23 06 2020

Historique:

pubmed: 11 6 2020

medline: 29 8 2020

entrez: 11 6 2020

Statut: ppublish

Résumé

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in children. The disease appears to cluster in families, but the pathogenesis is unknown. We queried two European-American cohorts and one Turkish cohort (total

Identifiants

DOI: 10.1073/pnas.2002051117 PMID: 32518111 PMC: PMC7322016

pubmed: 32518111

pii: 2002051117

doi: 10.1073/pnas.2002051117

pmc: PMC7322016

doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

Pagination

14405-14411

Subventions

Organisme : Medical Research Council

ID : MC_PC_19009

Pays : United Kingdom

Investigateurs

David P Ascher (DP)

Leslie G Biesecker (LG)

Priscilla Chan (P)

Thomas P Conrads (TP)

Jennifer J Johnston (JJ)

Alexander E Katz (AE)

Katie L Lewis (KL)

G Larry Maxwell (GL)

Justin Paschall (J)

Henoke Shiferaw (H)

Tyra G Wolfsberg (TG)

Wendy S W Wong (WSW)

Suiyuan Zhang (S)

Informations de copyright

Déclaration de conflit d'intérêts

Competing interest statement: F.D. is a consultant to Novartis and receives royalties from UpToDate. K.M.E. is on the Data Safety and Monitoring Board for Seqirus, Pfizer, Sanofi, Moderna, and X4 Pharma, and serves as an advisor to Bio-Net and Merck. P.F.W. is on the scientific advisory boards for GlaxoSmithKline, Sanofi-Pasteur, and Meissa Vaccines.

Références

Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8867-72

pubmed: 24821759

Clin Rheumatol. 2016 Feb;35(2):501-5

pubmed: 25665824

Nat Immunol. 2010 Dec;11(12):1093-101

pubmed: 20953201

J Pediatr. 2011 Dec;159(6):958-64

pubmed: 21798555

Clin Rheumatol. 2014 May;33(5):677-83

pubmed: 24623459

Nat Rev Microbiol. 2016 Jul;14(7):421-33

pubmed: 27211790

Eur Cytokine Netw. 2006 Jun;17(2):90-7

pubmed: 16840027

Nat Commun. 2019 Mar 5;10(1):1052

pubmed: 30837455

J Immunol. 2017 Mar 1;198(5):2063-2069

pubmed: 28137891

Clin Exp Immunol. 2012 Apr;168(1):68-74

pubmed: 22385240

Nat Genet. 2017 Jul;49(7):1120-1125

pubmed: 28553958

N Engl J Med. 2015 Apr 16;372(16):1510-8

pubmed: 25875256

Br J Pharmacol. 2010 Feb;159(4):842-55

pubmed: 20050849

Nat Genet. 2010 Aug;42(8):698-702

pubmed: 20622878

N Engl J Med. 2019 Nov 14;381(20):1918-1928

pubmed: 31722152

Arthritis Rheum. 2009 Oct 15;61(10):1287-96

pubmed: 19790126

J Oral Pathol Med. 2004 Mar;33(3):140-6

pubmed: 15128055

Proc Natl Acad Sci U S A. 2011 Apr 26;108(17):7148-53

pubmed: 21478439

Pediatr Dermatol. 2011 May-Jun;28(3):290-4

pubmed: 21133994

Acta Paediatr. 2010 Feb;99(2):178-84

pubmed: 19889105

Nat Genet. 2010 Aug;42(8):703-6

pubmed: 20622879

Immunol Rev. 2004 Dec;202:139-56

pubmed: 15546391

Nat Med. 2014 Jun;20(6):633-41

pubmed: 24743305

J Allergy Clin Immunol. 2013 Jun;131(6):1635-43

pubmed: 23006543

Arthritis Res Ther. 2018 Jun 12;20(1):124

pubmed: 29895319

Immunity. 2019 Apr 16;50(4):851-870

pubmed: 30995503

J Biol Chem. 1995 Mar 3;270(9):4640-9

pubmed: 7876235

Proc Natl Acad Sci U S A. 2020 Jan 7;117(1):552-562

pubmed: 31871193

Clin Exp Dermatol. 2015 Apr;40(3):286-8

pubmed: 25511245

Hum Mol Genet. 2010 Sep 1;19(17):3468-76

pubmed: 20570966

Mol Immunol. 2015 May;65(1):139-47

pubmed: 25656804

Sci Rep. 2015 May 19;5:10200

pubmed: 25988833

Nat Genet. 2017 Mar;49(3):438-443

pubmed: 28166214

Nature. 2014 Mar 20;507(7492):366-370

pubmed: 24572363

Arch Dermatol. 1998 Jul;134(7):827-31

pubmed: 9681346

Nature. 2007 Oct 18;449(7164):851-61

pubmed: 17943122

Annu Rev Immunol. 2009;27:621-68

pubmed: 19302049

J Oral Pathol Med. 2014 Oct;43(9):691-5

pubmed: 24801453

J Pediatr. 1987 Jan;110(1):43-6

pubmed: 3794885

J Allergy Clin Immunol. 2011 Sep;128(3):655-64

pubmed: 21724243

Pediatrics. 2016 Sep;138(3):

pubmed: 27565549

N Engl J Med. 2019 Nov 14;381(20):1975-1977

pubmed: 31722161

Nat Genet. 2013 Feb;45(2):202-7

pubmed: 23291587

Cell Signal. 2014 Sep;26(9):2016-29

pubmed: 24882690

Eur J Immunol. 2015 Jun;45(6):1736-47

pubmed: 25820702

Nature. 2007 Nov 22;450(7169):566-9

pubmed: 18033300

Lancet. 1990 May 5;335(8697):1078-80

pubmed: 1970380

Immunol Lett. 2005 Jun 15;99(1):57-62

pubmed: 15894112