Document Detail


Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade.
MedLine Citation:
PMID:  21478439     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is the most common periodic fever disease in children. However, the pathogenesis is unknown. Using a systems biology approach we analyzed blood samples from PFAPA patients whose genetic testing excluded hereditary periodic fevers (HPFs), and from healthy children and pediatric HPF patients. Gene expression profiling could clearly distinguish PFAPA flares from asymptomatic intervals, HPF flares, and healthy controls. During PFAPA attacks, complement (C1QB, C2, SERPING1), IL-1-related (IL-1B, IL-1RN, CASP1, IL18RAP), and IFN-induced (AIM2, IP-10/CXCL10) genes were significantly overexpressed, but T cell-associated transcripts (CD3, CD8B) were down-regulated. On the protein level, PFAPA flares were accompanied by significantly increased serum levels of chemokines for activated T lymphocytes (IP-10/CXCL10, MIG/CXCL9), G-CSF, and proinflammatory cytokines (IL-18, IL-6). PFAPA flares also manifested a relative lymphopenia. Activated CD4(+)/CD25(+) T-lymphocyte counts correlated negatively with serum concentrations of IP-10/CXCL10, whereas CD4(+)/HLA-DR(+) T lymphocyte counts correlated positively with serum concentrations of the counterregulatory IL-1 receptor antagonist. Based on the evidence for IL-1β activation in PFAPA flares, we treated five PFAPA patients with a recombinant IL-1 receptor antagonist. All patients showed a prompt clinical and IP-10/CXCL10 response. Our data suggest an environmentally triggered activation of complement and IL-1β/-18 during PFAPA flares, with induction of Th1-chemokines and subsequent retention of activated T cells in peripheral tissues. IL-1 inhibition may thus be beneficial for treatment of PFAPA attacks, with IP-10/CXCL10 serving as a potential biomarker.
Authors:
Silvia Stojanov; Sivia Lapidus; Puja Chitkara; Henry Feder; Juan C Salazar; Thomas A Fleisher; Margaret R Brown; Kathryn M Edwards; Michael M Ward; Robert A Colbert; Hong-Wei Sun; Geryl M Wood; Beverly K Barham; Anne Jones; Ivona Aksentijevich; Raphaela Goldbach-Mansky; Balu Athreya; Karyl S Barron; Daniel L Kastner
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Publication Detail:
Type:  Clinical Trial; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural     Date:  2011-04-08
Journal Detail:
Title:  Proceedings of the National Academy of Sciences of the United States of America     Volume:  108     ISSN:  1091-6490     ISO Abbreviation:  Proc. Natl. Acad. Sci. U.S.A.     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-04-27     Completed Date:  2011-06-24     Revised Date:  2011-10-26    
Medline Journal Info:
Nlm Unique ID:  7505876     Medline TA:  Proc Natl Acad Sci U S A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  7148-53     Citation Subset:  IM    
Affiliation:
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Data Bank Information
Bank Name/Acc. No.:
GEO/GSE17732
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child
Child, Preschool
Cytokines / immunology,  metabolism
Female
Fever / immunology*,  metabolism,  therapy
Gene Expression Profiling
Gene Expression Regulation / immunology
Humans
Immunity, Innate*
Interleukin-1 / antagonists & inhibitors,  immunology*,  metabolism
Lymphadenitis / immunology*,  metabolism,  therapy
Lymphocyte Activation / immunology*
Male
Pharyngitis / immunology*,  metabolism,  therapy
Stomatitis, Aphthous / immunology,  metabolism,  therapy
Th1 Cells / immunology*
Chemical
Reg. No./Substance:
0/Cytokines; 0/Interleukin-1
Comments/Corrections
Comment In:
Proc Natl Acad Sci U S A. 2011 Aug 23;108(34):E525   [PMID:  21810991 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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