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

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. Mut...

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Detalles Bibliográficos
Autores principales: Liu, Jun, Hu, Xu-Yun, Zhao, Zhi-Peng, Guo, Ruo-Lan, Guo, Jun, Li, Wei, Hao, Chan-Juan, Xu, Bao-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857307/
https://www.ncbi.nlm.nih.gov/pubmed/31727123
http://dx.doi.org/10.1186/s12881-019-0919-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857307/
https://www.ncbi.nlm.nih.gov/pubmed/31727123
http://dx.doi.org/10.1186/s12881-019-0919-3

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