Defects in mevalonate kinase, a critical rate-limiting enzyme in cholesterol and isoprene
metabolism, have been associated with 2 clinical phenotypes: mevalonic aciduria, which …

Mevalonate Kinase Deficiency (MKD) is an autosomal-recessively inherited disorder of
cholesterol biosynthesis with higher prevalence in the Netherlands and other North …

The term “vasculitis” refers to a heterogeneous group of clinical entities in which blood
vessels are damaged by inflammation-mediated processes. These conditions may be …

The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase
deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase …

自身炎症性疾病临床表现多样, 常出现误诊或延迟诊断. 临床表现为复发性全身性炎性反应,
绝大多数患者表现为突发周期性发热, 伴急相反应物升高, 皮疹, 浆膜炎, 淋巴结肿大和关节炎等 …

Аутовоспалительные заболевания (АВЗ)—новое понятие, сформулированное по
результатам изучения патогенеза семейных периодических лихорадок—гетерогенной …

Mevalonate kinase deficiency (MKD) is characterized by recurrent fevers and flares of
systemic inflammation, caused by biallelic loss-of-function mutations in MVK. The underlying …

This patient was a former 32 week premature female infant, born by elective caesarian
section due to concern for hydrops. After delivery she was found to have ascites and …

Inborn errors of metabolism (IEM) constitute a clinically heterogeneous group of inherited
disorders caused by defects that affect various metabolic processes. The incidence of IEM …

Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, hereditary
autoinflammatory condition characterized by recurrent inflammatory episodes. We report a 9 …