Zakiya AL MOSAWI1, Wafa MADAN1, Barrak AL MOOSAWI1, Sayed AL-WADAEI2, Husain NASER3, Fuad ALI4

1Department of Pediatric, Salmaniya Medical Complex, Manama, Bahrain
2Department of Medical, Salmaniya Medical Complex, Manama, Bahrain
3Department of Radiology, Salmaniya Medical Complex, Manama, Bahrain
4Department of Pediatric, Arabian Gulf University, Manama, Bahrain

Keywords: Anti-interleukin-1, congenital dyserythropoietic anemia, LPIN2 mutation, Majeed syndrome, recurrent multifocal osteomyelitis

Abstract

Majeed syndrome (MS) is a rare, autosomal recessive, autoinflammatory disease characterized by recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and inflammatory dermatome. In this article, we report the cases of two siblings with MS. Genetic studies of both siblings were obtained and revealed mutations in LPIN2 gene by means of a homozygous single-base pair change in the donor splice site of exon 17 (c.2327+1G>C). Both patients underwent different modalities of treatment for MS which involved immune-suppressive and biologic therapies. We observed a significant clinical response to biologic anti-interleukin-1 (IL-1) therapy in our patients. This impressive clinical response indicates the pivotal role of IL-1 in MS pathogenesis. There are limited data on the use of anti-IL-1 therapy in treating MS due to the rarity of the condition. Anti-IL-1 therapy should be considered as a promising treatment for this disease.

Conflict of Interest

The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.

Financial Disclosure

The authors received no financial support for the research and/or authorship of this article.