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PFAPA: a single phenotype with genetic heterogeneity
- Source :
- Pediatric Rheumatology Online Journal, Pediatric Rheumatology Online Journal, Vol 10, Iss Suppl 1, p A86 (2012)
- Publication Year :
- 2012
- Publisher :
- Springer Science and Business Media LLC, 2012.
-
Abstract
- Methods PFAPA patients were prospectively recruited. All patients had genetic testing to exclude mutations in the known fever genes (MVK, MEFV, TNFRSF1A, NLRP3, and ELA2). These PFAPA patients have been classified as sporadic or familial cases based on family history. Familial cases included those with a family member having PFAPA or a family member having a feature of PFAPA (recurrent fever, oral ulcer, pharyngitis, or lymphadenopathy). The demographics, symptoms, response to therapies, and clinical characteristics were compared for sporadic and familial cases. Detailed histories were obtained from families with multiple members affected by PFAPA.
- Subjects :
- Pediatrics
medicine.medical_specialty
lcsh:Diseases of the musculoskeletal system
medicine.diagnostic_test
Genetic heterogeneity
business.industry
lcsh:RJ1-570
lcsh:Pediatrics
MEFV
Phenotype
Rheumatology
Pharyngitis
Family member
Internal medicine
Poster Presentation
Pediatrics, Perinatology and Child Health
medicine
Immunology and Allergy
lcsh:RC925-935
Family history
medicine.symptom
business
Genetic testing
Subjects
Details
- ISSN :
- 15460096
- Volume :
- 10
- Database :
- OpenAIRE
- Journal :
- Pediatric Rheumatology
- Accession number :
- edsair.doi.dedup.....c37029264a7b761ab6df41f6d5de7372