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Primary immunodeficiencies (PID) is a group a rare disease, in which immune system is severely affected. A child affected is healthy at birth but severe infections can be a cause of death and permanent sequelae in the first year of life. An early diagnosis is necessary to start an effective therapy which can be completely curative for the affected child. PID should be included in a newborn screening program, but method costs are still unaffordable for most countries. Our research has the main aim to test both molecular biology for identification of TREC and KREC and tandems mass methods in a pilot program of newborn screening of PID and evaluate which method can give the best cost-effectiveness ratio.
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