Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients - expanding phenotype of CIAS1 related autoinflammatory syndrome

A, V198M mutation, which has been described to induce FCAS before. However, in our patients the clinical phenotype was very different from this disease. They never had urticaria, cold induced fever or conjunctivitis; instead the following symptoms occurred: Very regular periodic fever, irregular severe febrile episodes, relatively mild arthralgia, dry cough, cardiomyopathy, nephropathy and euthyroid thyroiditis all being reversible. We conclude that the clinical phenotype associated with mutations in the CIAS1 gene is much broader than assumed before. -->

ISSN:	0902-4441
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7959a2668e5c6f28977ffa297f17a354 https://doi.org/10.1111/j.1600-0609.2004.00270.x
Rights:	CLOSED
Přírůstkové číslo:	edsair.doi.dedup.....7959a2668e5c6f28977ffa297f17a354
Autor:	Theresa Förster, G Heubner, Svea Sallmann, Horst von Bernuth, Manfred Gahr, Angela Rösen-Wolff, Jörg Wendisch, Joachim Roesler, Peter Lohse, Gonke Porksen, Stefan Heyden
Rok vydání:	2004
Předmět:	Adult Male Thyroiditis Adolescent Fever DNA Mutational Analysis Mutation Missense Cardiomyopathy NALP3 Disease Nephropathy Familial Cold Autoinflammatory Syndrome Germany NLR Family Pyrin Domain-Containing 3 Protein medicine Humans Missense mutation Family Health Inflammation biology business.industry Syndrome Hematology General Medicine medicine.disease Autoinflammatory Syndrome Arthralgia Phenotype Immunology biology.protein Female Kidney Diseases Cardiomyopathies Carrier Proteins business
Zdroj:	European Journal of Haematology. 73:123-127
ISSN:	0902-4441
Popis:	Dominant mutations in the CIAS1 gene cause a spectrum of autoinflammatory diseases such as familial cold autoinflammatory syndrome, FCAS, which is characterized by episodes of urticaria, arthralgia, fever and conjunctivitis after generalized exposure to cold. We here describe patients of two German families with the 592G-->A, V198M mutation, which has been described to induce FCAS before. However, in our patients the clinical phenotype was very different from this disease. They never had urticaria, cold induced fever or conjunctivitis; instead the following symptoms occurred: Very regular periodic fever, irregular severe febrile episodes, relatively mild arthralgia, dry cough, cardiomyopathy, nephropathy and euthyroid thyroiditis all being reversible. We conclude that the clinical phenotype associated with mutations in the CIAS1 gene is much broader than assumed before.
Databáze:	OpenAIRE
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