Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes

Autor: J.P.H. Drenth, J.W.M. van der Meer, Richard Vesely, Anna Simon, U. Myrdal, K Yoshimura, P. Duys
Rok vydání: 2006
Předmět:
Male
Adolescent
Population
Membrane transport and intracellular motility [NCMLS 5]
Familial Mediterranean fever
medicine.disease_cause
Genetic analysis
Pyrin domain
Autoimmune Diseases
Invasive mycoses and compromised host [N4i 2]
Diagnosis
Differential
Rheumatology
Effective Primary Care and Public Health [EBP 3]
Humans
Medicine
Pharmacology (medical)
Genetic Testing
Molecular gastro-enterology and hepatology [IGMD 2]
Child
education
Inflammation
education.field_of_study
Mutation
business.industry
Syndrome
MEFV
Autoinflammatory Syndrome
medicine.disease
Familial Mediterranean Fever
Pathogenesis and modulation of inflammation [N4i 1]
Genetic defects of metabolism [UMCN 5.1]
Immunology
Female
Microbial pathogenesis and host defense [UMCN 4.1]
Differential diagnosis
business
Infection and autoimmunity [NCMLS 1]
Zdroj: Rheumatology, 45, 269-73
Rheumatology, 45, 3, pp. 269-73
ISSN: 1462-0324
Popis: Contains fulltext : 50710.pdf (Publisher’s version ) (Closed access) OBJECTIVE: Hereditary autoinflammatory syndromes are characterized by recurrent episodes of fever and inflammation. Seven subtypes have been described, caused by mutations in four different genes. Apart from a common phenotype of lifelong recurrent inflammatory attacks, all subtypes have distinct features and specific therapeutic options, which emphasizes the need for a specific diagnosis in each case. Our aim was to examine whether genetic screening would allow classification of previously unclassified patients, and whether individual patients suffering from an autoinflammatory syndrome carry additional mutations in one of the other autoinflammatory genes. METHODS: We included 60 patients with an unclassified autoinflammatory syndrome, 87 patients diagnosed with either hyper-IgD syndrome, familial Mediterranean fever (FMF) or tumour necrosis factor (TNF)-receptor-associated periodic syndrome and 50 healthy controls. Deoxyribonucleic acid samples were screened for the most prevalent mutations in the MEFV, TNFRSF1A, MVK and CIAS1 genes. RESULTS: We found only one possible diagnosis of FMF in the 60 previously unclassified patients. Two low-penetrance mutations were found in equal numbers in the groups of patients and controls. CONCLUSIONS: Screening of highly prevalent mutations in known genes involved in these disorders does not yield additional relevant information. Differential diagnosis of hereditary autoinflammatory syndromes can be made by thorough clinical examination followed by targeted genetic analysis of the one or two most likely syndromes. High-prevalence low-penetrant mutations from autoinflammatory genes do not occur more frequently in patients with hereditary autoinflammatory syndromes compared with the general population.
Databáze: OpenAIRE
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