Mevalonate kinase deficiency (hyper-IgD syndrome) overlap mutation familial Mediterranean fever
Reumatol Clin. 2017 Jan-Feb;13(1):57.
doi: 10.1016/j.reuma.2016.03.007.
Epub 2016 Apr 11.
[Article in
English,
Spanish]
Affiliations
- 1 Servicio de Reumatología, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, España. Electronic address: aldolsa@hotmail.com.
- 2 Servicio de Reumatología, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, España.
- 3 Servicio de Neurología, Hospital Clínico Universitario Lozano Blesa, Zaragoza, España.
No abstract available
MeSH terms
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Child
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Familial Mediterranean Fever / complications
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Familial Mediterranean Fever / diagnosis*
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Familial Mediterranean Fever / genetics
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Genetic Markers
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Homozygote
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Humans
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Male
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Mevalonate Kinase Deficiency / complications
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Mevalonate Kinase Deficiency / diagnosis*
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Mevalonate Kinase Deficiency / genetics
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Mutation*
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Phosphotransferases (Alcohol Group Acceptor) / genetics*
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Pyrin / genetics*
Substances
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Genetic Markers
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MEFV protein, human
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Pyrin
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Phosphotransferases (Alcohol Group Acceptor)
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mevalonate kinase