title: Primary immunodeficiencies worldwide: an updated overview from the Jeffrey Modell Centers Global Network.
abstract: Primary immunodeficiencies (PI) are defects of the immune system that cause severe, sometimes life-threatening, infections if not diagnosed and treated appropriately. Many patients with PI are undiagnosed, under-diagnosed, or misdiagnosed. To raise awareness and assure earliest diagnosis, appropriate treatment, and proper care management, the Jeffrey Modell Foundation (JMF) implemented a physician education and public awareness program beginning in 2003. Data are requested annually from physician experts within the Jeffrey Modell Centers Network (JMCN), consisting of 602 expert physicians, at 253 academic institutions, in 206 cities, and 84 countries spanning six continents. Center Directors reported on patients' specific PI defects and treatment modalities including immunoglobulins, transplantation, and gene therapy as well as data on gender and age. Center Directors also provided physician-reported patient outcomes as well as pre- and post-diagnosis differences. Costs were assigned to these factors. In collaboration with the Network, JMF advocated, funded, and implemented population-based newborn screening for severe combined immunodeficiency and T cell lymphopenia, covering 96.2 % of all newborns in the US. Finally, 21 JMF Centers participated in a polio surveillance study of patients with PI who either received or have been exposed to the oral polio vaccine. These initiatives have led to an overall better understanding of the immune system and will continue to improve quality of life for 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.affiliation: Jeffrey Modell Foundation, 780 Third Avenue, 47th Floor, New York City, NY, 10017, USA.
authors.forename: Jessica
authors.initials: J
authors.lastname: Quinn
authors.affiliation: Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Jordan
authors.initials: J
authors.lastname: Orange
authors.affiliation: Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.affiliation: Jeffrey Modell Foundation, 780 Third Avenue, 47th Floor, New York City, NY, 10017, USA. fmodell@jmfworld.org.
authors.forename: Fred
authors.initials: F
authors.lastname: Modell
mesh_terms: D003365:Costs and Cost Analysis; D042241:Early Diagnosis; D004501:Education, Medical; D005260:Female; D005582:Foundations; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000191:economics / Q000453:epidemiology*; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D010353:Patient Education as Topic; D063868:Patient Outcome Assessment; D017149:Private Sector; D014481:United States / Q000453:epidemiology; D014765:Viral Vaccines / Q000276:immunology*
chemical_list: D014765:Viral Vaccines
keywords: Awareness; Diagnosis; Education; Gene discovery; Immunology; Jeffrey Modell Centers Network (JMCN); Jeffrey Modell Foundation (JMF); Primary immunodeficiencies (PI); Treatment