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J Clin Immunol. 2014 Jan;34(1):123-6. doi: 10.1007/s10875-013-9955-5. Epub 2013 Nov 1.

Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.

Author information

1
Pediatric Infectious Diseases Research Center, Children's Medical Center, Tehran University of Medical Sciences, 62 Gharib St, 14194, Tehran, Iran, nparvaneh@tums.ac.ir.

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.

PMID:
24177804
DOI:
10.1007/s10875-013-9955-5
[Indexed for MEDLINE]

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