Cryopyrin-associated Periodic Syndrome
What's New
Last Posted: Mar 10, 2023
- An Adult Patient With a Novel Mutation in NLRP3 Gene Associated With Cryopyrin-Associated Periodic Syndrome Mimicking Adult-Onset Still Disease.
Ocampo Vanessa, et al. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2017 0 (3) 158-159 - Next-Generation Sequencing Analysis of MVK, NLRP3, TNFRSF1A, and PSTPIP1 Genes in Patients without MEFV Gene Variation and Genotype-Phenotype Correlation.
Vuran Gamze, et al. European journal of rheumatology 2022 0 (2) 62-67 - Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS).
Li Caifeng, et al. Science China. Life sciences 2017 0 (12) 1436-1444 - Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.
Hansmann Sandra et al. Pediatric rheumatology online journal 2020 Feb 18(1) 17 - Diagnostic Rate of Autoinflammatory Diseases Evaluated by Fever Patterns in Pediatric- and Adult-Onset Patients.
Miyamae Takako, et al. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2020 3 (2) 60-62 - Performance of the new 'Eurofever/PRINTO classification criteria' in FMF patients.
Sag Erdal, et al. Seminars in arthritis and rheumatism 2019 8 - A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.
Rigante Donato et al. Clinical reviews in allergy & immunology 2016 Apr - NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.
Sobolewska Bianka, et al. The Journal of rheumatology 2016 5 - Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Demirkaya Erkan et al. The Journal of rheumatology 2015 Nov - Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.
Levy R, et al. Annals of the rheumatic diseases 2014 7
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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