Article
Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome.
Clinical immunology (Orlando, Fla.) - 1 Jun 2009
Schejbel Lone, Rosenfeldt Vibeke, Marquart Hanne, Valerius Niels Henrik, Garred Peter
Abstract excerpt
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...
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