期刊
CLINICAL IMMUNOLOGY
卷 131, 期 3, 页码 456-462出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.clim.2009.02.008
关键词
Properdin; PFC; Deficiency; Alternative complement pathway; Meningococcal disease; Immunodeficiency; Otitis media; Pneumonia; Klinefelter syndrome
类别
资金
- Novo-Nordisk Research Foundation
- Birthe and John Meyer Foundation
- Rigshospitalet and the Danish Medical Research Council
Properdin is an initiator and stabilizer of the alternative complement activation pathway (AP). Deficiency of properdin is a rare X-linked condition characterized by increased susceptibility to infection with Neisseria meningitidis associated with a high mortality rate. We report properdin deficiency in a large Pakistani family. The index cases were found by screening for immunodeficiency due to a history of recurrent infections. This revealed absent AP activity, but normal classical and lectin pathway activity. Sequencing of the properdin gene (PFC) revealed a novel frameshift mutation. When all available relatives (n=24) were screened for the mutation, four affected mates, four female carriers and a male heterozygous carrier were identified. He was subsequently diagnosed with Klinefelter syndrome. A questionnaire revealed a striking association between properdin deficiency and recurrent otitis media (P=0.0012), as well as recurrent pneumonia (P=0.0017). This study is the first to show a significant association between properdin deficiency and recurrent infections. (C) 2009 Elsevier Inc. All rights reserved.
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