Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS).

التفاصيل البيبلوغرافية
العنوان:	Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS).
المؤلفون:	Messer, Laurent, Alsaleh-Alfarhan, Ghada, Georgel, Philippe, Carapito, Raphaël, Waterham, Hans R, Dali Youcef, Nassim, Bahram, Seiamak, Sibilia, Jean
المساهمون:	Hôpitaux Civils de Colmar, Immuno-Rhumatologie Moléculaire (IRM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire d'excellence (Labex) Transplantex (Nouveaux loci d’histocompatibilité et biomarqueurs en transplantation humaine, de la découverte à l’application clinique), Université de Strasbourg (UNISTRA), Fédération de Médecine Translationnelle de Strasbourg (FMTS), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Les Hôpitaux Universitaires de Strasbourg (HUS), ANR-11-LABX-0070,TRANSPLANTEX,Nouveaux loci d'histocompatibilité/biomarqueurs en transplantation humaine: de la découverte à l'app(2011)
المصدر:	ISSN: 2056-5933 ; RMD Open : Rheumatic & Musculoskeletal Diseases.
بيانات النشر:	HAL CCSD BMJ
سنة النشر:	2016
مصطلحات موضوعية:	Disease Activity, Gene Polymorphism, Inflammation, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, [SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunity
الوصف:	This work was funded by the Laboratoire d'Excellence (LABEX) TRANSPLANEX [ANR-11-LABX-0070_TRANSPLANTEX]. Additional support was received from the Institut national de la santé et de la recherche médicale (INSERM), the University of Strasbourg (UNISTRA) and the Institut Universitaire de France (IUF). ; OBJECTIVE: Mevalonate kinase (MVK) deficiency is a rare autosomal recessive auto-inflammatory disorder characterised by recurring episodes of fever associated with multiple non-specific inflammatory symptoms and caused by mutations in the MVK gene. The phenotypic spectrum is wide and depends mostly on the nature of the mutations. Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) is a relatively mild presentation and predominantly associated with a c.1129G>A (p.V377I) mutation in the MVK gene. We report cases of two sisters homozygous for this mutation but exhibiting distinct (symptomatic vs asymptomatic) phenotypes.METHODS: Patient history was obtained; physical and clinical examination and laboratory tests were performed; lipopolysaccharide (LPS) response of peripheral blood mononuclear cells was quantified.RESULTS: Low MVK enzymatic activity is not necessarily associated with inflammatory symptoms. Increased inflammatory cytokine secretion in response to LPS is associated with symptomatic MVK deficiency.CONCLUSIONS: Individuals who are homozygous for the common p.V377I mutation in the MVK gene may not display the characteristic inflammatory episodes diagnostic of MKD and thus may be lost for correct and timely diagnosis.
نوع الوثيقة:	article in journal/newspaper
اللغة:	English
Relation:	info:eu-repo/semantics/altIdentifier/pmid/26977311; PUBMED: 26977311; PUBMEDCENTRAL: PMC4785531
DOI:	10.1136/rmdopen-2015-000196
الاتاحة:	https://hal.science/hal-03683813 https://hal.science/hal-03683813v1/document https://hal.science/hal-03683813v1/file/islandora_66140.pdf https://doi.org/10.1136/rmdopen-2015-000196
Rights:	info:eu-repo/semantics/OpenAccess
رقم الانضمام:	edsbas.F9C9EA94
قاعدة البيانات:	BASE

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الوصف
DOI:	10.1136/rmdopen-2015-000196