Immunologic Research

, Volume 64, Issue 3, pp 736–753

Primary immunodeficiencies worldwide: an updated overview from the Jeffrey Modell Centers Global Network

  • Vicki Modell
  • Jessica Quinn
  • Jordan Orange
  • Luigi D. Notarangelo
  • Fred Modell
Original Article

DOI: 10.1007/s12026-016-8784-z

Cite this article as:
Modell, V., Quinn, J., Orange, J. et al. Immunol Res (2016) 64: 736. doi:10.1007/s12026-016-8784-z

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.

Keywords

Primary immunodeficiencies (PI) Jeffrey Modell Foundation (JMF) Jeffrey Modell Centers Network (JMCN) Awareness Education Diagnosis Treatment Gene discovery Immunology 

Abbreviations

PI

Primary immunodeficiencies

JMF

Jeffrey Modell Foundation

JMCN

Jeffrey Modell Centers Network

SCID

Severe combined immunodeficiency

IUIS

International Union of Immunological Societies

HSCT

Hematopoietic stem cell transplantation

CVID

Common variable immunodeficiency

IG

Immunoglobulin therapy

IVIG

Intravenous immunoglobulin therapy

SCIG

Subcutaneous immunoglobulin therapy

PEG-ADA

Polyethylene glycol-conjugated adenosine deaminase

BM

Bone marrow

PBSC

Peripheral blood stem cell

Cord

Cord blood

WAS

Wiskott–Aldrich syndrome

MUD

Matched unrelated donor

mMUD

Mismatched unrelated donor

MRD

Matched related donor

PBSC

Peripheral blood stem cell

NBS

Newborn screening

OPV

Oral polio vaccine

VDPV

Vaccine-derived poliovirus

VAPP

Vaccine-associated paralytic poliomyelitis

Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • Vicki Modell
    • 1
  • Jessica Quinn
    • 1
  • Jordan Orange
    • 2
  • Luigi D. Notarangelo
    • 3
  • Fred Modell
    • 1
  1. 1.Jeffrey Modell FoundationNew York CityUSA
  2. 2.Texas Children’s HospitalBaylor College of MedicineHoustonUSA
  3. 3.Children’s Hospital BostonHarvard Medical SchoolBostonUSA