Global study of primary immunodeficiency diseases (PI)—diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation
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A large population of patients with recurring infections are undiagnosed or under diagnosed and Primary Immunodeficiency (PI) is more common than had been previously estimated. The results strongly indicate the measurable impact of Physician Education and Public Awareness in identifying patients with an underlying PI. The Jeffrey Modell Centers Network (JMCN) provides the infrastructure for referral, diagnosis and appropriate treatment. All disease classifications and identified defects increased significantly over the study period. Quality of Life for referred and diagnosed patients dramatically improved compared to undiagnosed patients. There is a substantial cost savings for diagnosed patients compared to undiagnosed, even if regular IgG is required. The SPIRIT® Software successfully identified patients with PI in a large database and at three pilot sites. The Software was successfully tested for specificity and sensitivity.
KeywordsPrimary immunodeficiencies (PI) Jeffrey Modell Foundation (JMF) Jeffrey Modell Centers Network (JMCN) Immunoglobulin replacement therapy Awareness Economic impact Diagnosis Treatment
The Jeffrey Modell Foundation
Jeffrey Modell Centers Network
Physician Education and Public Awareness Campaign
Software for primary immunodeficiency recognition, intervention, and tracking
Immunoglobulin replacement therapy
Hematopoietic stem cell transplantation
European society for immunodeficiencies
JMF acknowledges with gratitude the dedication of the physician experts who provided the documentation needed to complete this study of patients with PI. JMF also acknowledges with appreciation ESID and the data provided through their online registry at http://www.esid.org. This publication was supported in part by Grant/Cooperative Agreement # 5H75DP225146-03 from the Centers for Disease Control and Prevention (CDC). JMF thanks Dr. Luigi D. Notarangelo for critical review and interpretation of the data. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of CDC.
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