Majeed syndrome is an autoinflammatory disorder consisting of chronic recurrent 
multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic 
dermatosis. To date, 2 unrelated families with Majeed syndrome have been 
reported. Mutations in LPIN2 have been found in both families. Here we report a 
third consanguineous family with Majeed syndrome with a novel mutation. The 
patient, a 3-year-old Arabic girl, had hepatosplenomegaly and anemia as a 
neonate. At age 15 months, she developed recurrent episodes of fever and 
multifocal osteomyelitis. In addition, bone marrow aspiration demonstrated 
significant dyserythropoiesis, suggesting Majeed syndrome. Coding sequences and 
splice sites of LPIN2 were sequenced in the patient and her mother. A homozygous 
single-basepair change was detected in the donor splice site of exon 17 
(c.2327+1G>C) in the patient; her mother was heterozygous at this site. These 
data confirm the role of LPIN2 mutations in the etiology of Majeed syndrome.