Article
Newborn screening for primary immunodeficiencies: beyond SCID and XLA.
Annals of the New York Academy of Sciences - 1 Dec 2011
Borte Stephan, Wang Ning, Oskarsdóttir Sólveig, von Döbeln Ulrika, Hammarström Lennart
Abstract excerpt
Primary immunodeficiencies (PID) encompass more than 250 disease entities, including phagocytic disorders, complement deficiencies, T cell defects, and antibody deficiencies. While differing in clinical severity, early diagnosis and treatment is of considerable importance for all forms of PID to prevent organ damage and life-threatening infections. During the past few years, neonatal screening assays have been...
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