@article{48cdc1c0537411df928f000ea68e967b,
title = "Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome",
abstract = "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 males, 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.",
author = "Lone Schejbel and Vibeke Rosenfeldt and Hanne Marquart and Valerius, {Niels Henrik} and Peter Garred",
note = "Keywords: Female; Genetic Predisposition to Disease; Heterozygote; Humans; Klinefelter Syndrome; Male; Mutation; Otitis Media; Pedigree; Pneumonia; Properdin; Questionnaires; Recurrence; Retrospective Studies",
year = "2009",
doi = "10.1016/j.clim.2009.02.008",
language = "English",
volume = "131",
pages = "456--462",
journal = "Clinical Immunology",
issn = "1521-6616",
publisher = "Academic Press",
number = "3",
}