Article

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

2019-11-01

Abstract excerpt

<title>Abstract</title> <p>Background: Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, congenital dyserythropoietic anemia (CDA), and often neutrophilic dermatosis. Mutations in the LPIN2 gene located on the short arm of chromosome 18 have been identified a...

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Literature Corpus work: 21a441c1-0269-50dc-bdce-897cb8e24ead
DOI: 10.21203/rs.2.11655/v3

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