Autoinflammatory disease syndrome of hyperimmunoglobulinemia D
Медицинский вестник Юга России, 2022 Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out.
T. M. Somova
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Cellular Physiology and Biochemistry, 2017 Background/Aims: Mevalonate Kinase Deficiency (MKD), is a hereditary disease due to mutations in mevalonate kinase gene (MVK). MKD has heterogeneous clinical phenotypes: the correlation between MVK mutations and MKD clinical phenotype is still to be ...
Paola Maura Tricarico +4 more
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A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness [PDF]
BMC Pediatrics, 2019 Background This case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with gross motor delay. Her case revealed an often missed diagnosis of Mevalonate Kinase Deficiency,
Tiziana Coppola +4 more
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Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency [PDF]
Frontiers in Immunology, 2019 The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the MVK gene encoding mevalonate kinase.
Marcia A. Munoz +10 more
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Mevalonic Aciduria in a Pediatric Patient: A Case Report and Literature Review of Neuroimaging Findings. [PDF]
CureusMevalonic aciduria is a rare autosomal recessive disorder resulting from mevalonate kinase deficiency. Neuroimaging findings associated with the disease have been documented in only a few case reports. We present a case of mevalonic aciduria with both already reported and novel neuroimaging findings and conduct a literature review regarding the role of
Esmeraldo MA +3 more
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Mevalonate kinase deficiency: current perspectives
The Application of Clinical Genetics, 2016 Leslie A Favier, Grant S Schulert Division of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA Abstract: Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of
Favier LA, Schulert GS
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A case report of Hyper-IgD syndrome in a 5-year-old girl with recurrent fever, skin rash, and arthralgia; novel MVK mutation (C.298G>A). [PDF]
Clin Case RepKey Clinical Message This case highlights the potential for later‐onset Hyper‐IgD syndrome (HIDS) even beyond infancy. Clinicians evaluating children with recurrent fever, skin rash, and arthralgia should consider HIDS in the differential diagnosis, regardless of age.
Tabibi P, Shiari R, Ghotb Abadi SH.
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Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease. [PDF]
CNS Neurosci TherNeurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
He Y, Xie K, Yang K, Wang N, Zhang L.
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A Patient With Concurrent Hidradenitis Suppurativa and Porokeratosis Palmaris et Plantaris Disseminata: Case Report and Review of Autoinflammatory Keratinization Diseases. [PDF]
J Cutan PatholABSTRACT The term autoinflammatory keratinization diseases (AIKDs) was recently proposed as a unifying concept for diseases characterized by inflammation in the epidermis and upper dermis which leads to hyperkeratosis, caused by genetic perturbations of the innate immune system.
Rogers MC +3 more
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A Distinct Phenotype of Mevalonic Acidemia with Absence of Pathogenic Mutations of Mevalonate Kinase Gene [PDF]
مجلة جامعة النجاح للأبحاث العلوم الطبيعية, 2016 Mevalonic aciduria is an autosomal recessive disorder caused by deficiency of mevalonate kinase and characterized by recurrent febrile crisis, ophthalmic and neurological manifestations.
Imad Dweikat, Nadera Damsa, Enas Naser
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