title: Global study of primary immunodeficiency diseases (PI)--diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation.
abstract: 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.
authors.affiliation: Jeffrey Modell Foundation, 780 Third Avenue, 47th Floor, New York, NY 10017, USA.
authors.forename: Vicki
authors.initials: V
authors.lastname: Modell
authors.forename: Bonnie
authors.initials: B
authors.lastname: Gee
authors.forename: David B
authors.initials: DB
authors.lastname: Lewis
authors.forename: Jordan S
authors.initials: JS
authors.lastname: Orange
authors.forename: Chaim M
authors.initials: CM
authors.lastname: Roifman
authors.forename: John M
authors.initials: JM
authors.lastname: Routes
authors.forename: Ricardo U
authors.initials: RU
authors.lastname: Sorensen
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Fred
authors.initials: F
authors.lastname: Modell
mesh_terms: D017074:Common Variable Immunodeficiency / Q000145:classification / Q000175:diagnosis* / Q000191:economics* / Q000453:epidemiology / Q000276:immunology / Q000628:therapy*; D016208:Databases, Factual; D005260:Female; D006801:Humans; D008297:Male; D012984:Software