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  1. MVK mutations in unusual populations

  2. Molecular Genetic Testing | Centre for Amyloidosis and Acute Phase...

    MEFV, pyrin innate immunity regulator. MEFV. 16p13.3. mevalonate kinase. MVK. 12q24.11.

  3. Autoinflammatory Syndromes | Centre for Amyloidosis and Acute Phase...

    Mevalonate kinase deficiency (MKD). Mevalonate kinase deficiency (MKD), also known as Hyperimmunoglobulin D and periodic fever syndrome (HIDS), is an autosomal recessive disease caused by mutations in the mevalonate kinase (MVK)

  4. TP53 codon 72 polymorphism and cervical cancer: a pooled analysis of individual data from...

  5. Tocilizumab for the Treatment of Mevalonate Kinase Deficiency.

    Mevalonate kinase deficiency (MKD) is a severe autoinflammatory disease caused by recessive mutations in MVK resulting in reduced function of the enzyme mevalonate kinase, involved in the cholesterol/isoprenoid pathway. MKD presents with periodic

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  7. How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?

    The systemic autoinflammatory disorders (SAIDs) are associated with dysregulation of the innate immune system, affecting pro-inflammatory cytokines and apoptosis pathways. The spectrum of SAIDs continues to grow with over 30 different disorders

  8. ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic...

    BACKGROUND: Monogenic autoinflammatory diseases are caused by pathogenic variants in genes that regulate innate immune responses, and are characterized by sterile systemic inflammatory episodes. Since symptoms can overlap within this rapidly

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  10. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with...

    OBJECTIVE: To identify a set of clinical parameters that can predict the probability of carrying mutations in one of the genes associated with hereditary autoinflammatory syndromes. METHODS: A total of 228 consecutive patients with a clinical

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