Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?

Interleukin 6 Blockade for Hyperimmunoglobulin D and Periodic Fever Syndrome

(2015) Hiba M. Shendi et al.   JCR-JOURNAL OF CLINICAL RHEUMATOLOGY

Splicing mutation in MVK is a cause of porokeratosis of Mibelli

(2014) Kang Zeng et al.   ARCHIVES OF DERMATOLOGICAL RESEARCH

A novel mutation for disseminated superficial actinic porokeratosis in theMVKgene

(2014) M.S. Zhou et al.   BRITISH JOURNAL OF DERMATOLOGY

Mevalonate kinase deficiency and IBD: shared genetic background

(2014) Anna Monica Bianco et al.   GUT

Block of the Mevalonate Pathway Triggers Oxidative and Inflammatory Molecular Mechanisms Modulated by Exogenous Isoprenoid Compounds

(2014) Paola Tricarico et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Unprenylated RhoA Contributes to IL-1β Hypersecretion in Mevalonate Kinase Deficiency Model through Stimulation of Rac1 Activity

(2014) Robert van der Burgh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis

(2014) Wen-sheng Lu et al.   MOLECULAR BIOLOGY REPORTS

TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome

(2014) Monique Stoffels et al.   RHEUMATOLOGY

Quantification of urinary mevalonic acid as a biomarker of HMG-CoA reductase activity by a novel translational LC–MS/MS method

(2014) Alison VM Rodrigues et al.   Bioanalysis

Identification of three novel frameshift mutations of theMVKgene in four Chinese families with disseminated superficial actinic porokeratosis

(2013) Y. Zhou et al.   BRITISH JOURNAL OF DERMATOLOGY

Defects in Mitochondrial Clearance Predispose Human Monocytes to Interleukin-1β Hypersecretion

(2013) Robert van der Burgh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Intermittent Neutropenia as an Early Feature of Mild Mevalonate Kinase Deficiency

(2013) Nima Parvaneh et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Mutation analysis of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis

(2013) Jingxin Dai et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Mutations in the Mevalonate Kinase ( MVK ) Gene Cause Nonsyndromic Retinitis Pigmentosa

(2013) Anna M. Siemiatkowska et al.   OPHTHALMOLOGY

Weekly oral alendronate in mevalonate kinase deficiency

(2013) Luca Cantarini et al.   Orphanet Journal of Rare Diseases

Mouse model of mevalonate kinase deficiency: comparison of cytokine and chemokine profile with that of human patients

(2013) Annalisa Marcuzzi et al.   PEDIATRIC RESEARCH

Severe Early-Onset Colitis Revealing Mevalonate Kinase Deficiency

(2013) M. Levy et al.   PEDIATRICS

Liver Transplantation Followed by Allogeneic Hematopoietic Stem Cell Transplantation for Atypical Mevalonic Aciduria

(2012) S. Chaudhury et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

(2012) Nienke ter Haar et al.   ANNALS OF THE RHEUMATIC DISEASES

Lovastatin-induced apoptosis is modulated by geranylgeraniol in a neuroblastoma cell line

(2012) Annalisa Marcuzzi et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

HMG-CoA reductase inhibitors activate caspase-1 in human monocytes depending on ATP release and P2X7 activation

(2012) Y.-H. Liao et al.   JOURNAL OF LEUKOCYTE BIOLOGY

Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis

(2012) Sheng-Quan Zhang et al.   NATURE GENETICS

Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency

(2012) C. Galeotti et al.   RHEUMATOLOGY

On-demand anakinra treatment is effective in mevalonate kinase deficiency

(2011) E. J. Bodar et al.   ANNALS OF THE RHEUMATIC DISEASES

Defect in mevalonate pathway induces pyroptosis in Raw 264.7 murine monocytes

(2011) Annalisa Marcuzzi et al.   APOPTOSIS

Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS)

(2011) Elizabeth J. Hager et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency

(2010) Alessandra Pontillo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Natural isoprenoids inhibit LPS-induced-production of cytokines and nitric oxide in aminobisphosphonate-treated monocytes

(2010) Annalisa Marcuzzi et al.   INTERNATIONAL IMMUNOPHARMACOLOGY

Natural Isoprenoids are Able to Reduce Inflammation in a Mouse Model of Mevalonate Kinase Deficiency

(2009) Annalisa Marcuzzi et al.   PEDIATRIC RESEARCH

Etanercept and anakinra can prolong febrile episodes in patients with hyperimmunoglobulin D and periodic fever syndrome

(2009) Hiba M. Shendi et al.   RHEUMATOLOGY INTERNATIONAL

HMG-CoA reductase inhibition induces IL-1  release through Rac1/PI3K/PKB-dependent caspase-1 activation

(2008) L. M. Kuijk et al.   BLOOD

Statin synergizes with LPS to induce IL-1β release by THP-1 cells through activation of caspase-1

(2008) Loes M. Kuijk et al.   MOLECULAR IMMUNOLOGY