作者
Zakiya S Al‐Mosawi, Khulood K Al‐Saad, Roya Ijadi‐Maghsoodi, Hatem I El‐Shanti, Polly J Ferguson
发表日期
2007/3
期刊
Arthritis & Rheumatism
卷号
56
期号
3
页码范围
960-964
出版商
Wiley Subscription Services, Inc., A Wiley Company
简介
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 …
引用总数
2007200820092010201120122013201420152016201720182019202020212022202320245688991710381557610311
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ZS Al‐Mosawi, KK Al‐Saad, R Ijadi‐Maghsoodi… - Arthritis & Rheumatism, 2007