title: Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery.
abstract: Primary immunodeficiencies (PI) are defects of the immune system that cause severe infections if not diagnosed and treated appropriately. Many patients with PI are undiagnosed, under-diagnosed, or misdiagnosed. Over the last decade, the Jeffrey Modell Foundation has implemented a Physician Education and Public Awareness Campaign (PEPAC) to raise awareness, assure early diagnosis, appropriate treatment, and management, with the overall goal to reduce morbidities and mortalities related to PI. In order to evaluate the PEPAC program, data are requested annually from physician experts within the Jeffrey Modell Centers Network (JMCN). The JMCN, consisting of 556 expert physicians, at 234 academic institutions, in 196 cities, and 78 countries spanning six continents, provides the infrastructure for referral, diagnosis, and appropriate treatment for patients with PI. In addition, the JMCN has made a significant contribution to the field of immunology with the discovery of new genes at the centers. These advancements have led to an overall better understanding of the immune system and will continue to improve quality of life of those with PI.
authors.affiliation: Jeffrey Modell Foundation, 780 Third Avenue, 47th Floor, New York City, NY, 10017, USA.
authors.forename: Vicki
authors.initials: V
authors.lastname: Modell
authors.forename: Megan
authors.initials: M
authors.lastname: Knaus
authors.forename: Fred
authors.initials: F
authors.lastname: Modell
authors.forename: Chaim
authors.initials: C
authors.lastname: Roifman
authors.forename: Jordan
authors.initials: J
authors.lastname: Orange
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003625:Data Collection; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology* / Q000235:genetics; D007223:Infant; D008297:Male; D055815:Young Adult