During the current reporting period we did not perform any genotyping or analysis in the rheumatoid arthritis project. Genotyping and analysis for two other genetically complex disorders, Behcets disease and systemic onset juvenile idiopathic arthritis, were quite active, and are described in separate Z01 reports (HG200374-02 MGB and HG200370-02 MGB, respectively). We have also begun whole-exome sequencing for small families with possibly Mendelian forms of PFAPA. Analyses of these data are ongoing.

Project Start
Project End
Budget Start
Budget End
Support Year
2
Fiscal Year
2012
Total Cost
$449,187
Indirect Cost
Name
National Human Genome Research Institute
Department
Type
DUNS #
City
State
Country
Zip Code
Manthiram, Kalpana; Li, Suzanne C; Hausmann, Jonathan S et al. (2017) Physicians' perspectives on the diagnosis and management of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Rheumatol Int 37:883-889
Manthiram, Kalpana; Lapidus, Sivia; Edwards, Kathryn (2017) Unraveling the pathogenesis of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis through genetic, immunologic, and microbiologic discoveries: an update. Curr Opin Rheumatol 29:493-499
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Yang, Yaning; Remmers, Elaine F; Ogunwole, Chukwuma B et al. (2011) Effective sample size: Quick estimation of the effect of related samples in genetic case-control association analyses. Comput Biol Chem 35:40-9
Stojanov, Silvia; Lapidus, Sivia; Chitkara, Puja et al. (2011) Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proc Natl Acad Sci U S A 108:7148-53