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

• Main Authors: Jun Liu (Author), Xu-Yun Hu (Author), Zhi-Peng Zhao (Author), Ruo-Lan Guo (Author), Jun Guo (Author), Wei Li (Author), Chan-Juan Hao (Author), Bao-Ping Xu (Author)
• Format: Book
• Published: BMC, 2019-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...