title: Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.
abstract: A 15-month-old boy, born to Iranian consanguineous parents presented with intermittent neutropenia interspersed with episodes of fever and leukocytosis since early infancy. No ELA2 mutations were found and the bone marrow study was normal. At age 4 years he progressed to more typical attacks of periodic attacks of fever, abdominal pain, oral aphthous ulcers, cutaneous rash and leukocytosis. The clinical and laboratory features were compatible with the mild form of mevalonate kinase deficiency, usually named "Hyper-IgD and periodic fever syndrome" (HIDS). Genomic sequencing of the mevalonate kinase (MVK) gene revealed homozygous missense mutation (p.Val377Ile). On demand dexamethasone resulted in a rapid amelioration of febrile episodes. The presentation of intermittent neutropenia has not been reported in HIDS and deserves more attention in large patient cohorts.
authors.affiliation: Pediatric Infectious Diseases Research Center, Children's Medical Center, Tehran University of Medical Sciences, 62 Gharib St, 14194, Tehran, Iran, nparvaneh@tums.ac.ir.
authors.forename: Nima
authors.initials: N
authors.lastname: Parvaneh
authors.forename: Vahid
authors.initials: V
authors.lastname: Ziaee
authors.forename: Mohammad-Hassan
authors.initials: MH
authors.lastname: Moradinejad
authors.forename: Isabelle
authors.initials: I
authors.lastname: Touitou
mesh_terms: D003241:Consanguinity; D005091:Exons; D006801:Humans; D007072:Immunoglobulin D / Q000097:blood; D007223:Infant; D007958:Leukocyte Count; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D009503:Neutropenia / Q000209:etiology*; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics
chemical_list: D007072:Immunoglobulin D; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase