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Article

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

Journal of clinical immunology - 1 Jan 2014

Parvaneh Nima, Ziaee Vahid, Moradinejad Mohammad-Hassan, Touitou Isabelle

Abstract excerpt

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...

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Source

Identifiers

PMID: 24177804
DOI: 10.1007/s10875-013-9955-5

Genes

MVK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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