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

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

Abstract 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 dermato...

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Bibliographic Details
Main Authors: Jun Liu, Xu-Yun Hu, Zhi-Peng Zhao, Ruo-Lan Guo, Jun Guo, Wei Li, Chan-Juan Hao, Bao-Ping Xu
Format: Article
Language:English
Published: BMC 2019-11-01
Series:BMC Medical Genetics
Subjects:
Majeed syndrome
Fever
Neutropenia
Autosomal recessive
Online Access:http://link.springer.com/article/10.1186/s12881-019-0919-3

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http://link.springer.com/article/10.1186/s12881-019-0919-3

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