Interleukin-1 antagonists in Mevalonate Kinase Deficiency
نویسندگان
چکیده
Background Mevalonate Kinase Deficiency (MKD) is one of the autoinflammatory fever syndromes, caused by mutations in the MKD gene. Systemic inflammatory symptoms may be mild to severe leading to early death, and recurrent bacterial infections frequently develop in the disease course. On demand NSAID and steroids are the most commonly used. Few case-reports suggested that interleukin-1 (IL-1) antagonists could alleviate MKD symptoms.
منابع مشابه
Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra
BACKGROUND Mevalonate kinase deficiency is a metabolic autoinflammatory syndrome caused by mutations in the MVK gene, mevalonate kinase, the key enzyme in the non-sterol isoprenoid biosynthesis pathway. Two phenotypes of mevalonate kinase deficiency are known based on the level of enzymatic deficiency, mevalonic aciduria and hyperimmunoglobulinemia D syndrome, but a wide spectrum of intermediat...
متن کاملEfficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency.
OBJECTIVE To describe the efficacy and safety of IL-1-targeting drugs, anakinra and canakinumab, in patients with mevalonate kinase deficiency (MKD). METHODS A questionnaire was sent to French paediatric and adult rheumatologists to retrospectively collect information on disease activity before and after treatment with IL-1 antagonists from genetically confirmed MKD patients. We assessed the ...
متن کاملP02-008 - Dramatic response to canakinumab in MKD
Introduction Mevalonate kinase deficiency-associated periodic fever syndrome (MKD) is a systemic autoinflammatory disease caused by mutations in the mevalonate kinase gene (MVK), previously named “hyper-IgD syndrome” due to its characteristic increase in serum IgD level. The patients suffer recurrent fever attacks every 2-8 weeks beginning from infancy, often precipitated by immunizations, infe...
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Mevalonate kinase deficiency is an autosomal recessive disorder characterized by recurring episodes of fever and inflammation. Peripheral blood mononuclear cells from mevalonate kinase deficiency patients secrete high levels of IL-1β when stimulated with lipopolysaccharide (LPS) due to the presence of hyperactive caspase-1. The molecular mechanism of mevalonate kinase deficiency-induced caspase...
متن کاملSevere early-onset colitis revealing mevalonate kinase deficiency.
Hyperimmunoglobulinemia D is the less severe form of mevalonate kinase deficiency (MKD) caused by recessive inherited mutation in the mevalonate kinase gene. Hyperimmunoglobulinemia D is characterized by febrile attacks, often associated with transient digestive manifestations, such as abdominal pain, diarrhea, and vomiting. Here we report for the first time 2 patients with MKD revealed by seve...
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