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Immunologic Research

, Volume 66, Issue 3, pp 367–380 | Cite as

Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes

  • Vicki Modell
  • Jordan S. Orange
  • Jessica Quinn
  • Fred Modell
Original Article

Abstract

Primary immunodeficiencies (PI) are genetic defects of the immune system that result in chronic, serious, and often life-threatening infections, if not diagnosed and treated. Many patients with PI are undiagnosed, underdiagnosed, or misdiagnosed. In fact, recent studies have shown that PI may be more common than previously estimated and that as many as 1% of the population may be affected with a PI when all types and varieties are considered. In order to raise awareness of PI with the overall goal of reducing associated morbidity and mortality, the Jeffrey Modell Foundation (JMF) established a network of specialized centers that could better identify, diagnose, treat, and follow patients with PI disorders. Over the past decade, the Jeffrey Modell Centers Network (JMCN) has provided the infrastructure to accept referrals, provide diagnosis, and offer treatments. Currently, the network consists of 792 Expert Physicians at 358 institutions, in 277 cities, and 86 countries spanning 6 continents. JMF developed an annual survey for physician experts within the JMCN, using the categories and gene defects identified by the International Union of Immunological Societies Expert Committee for the Classification of PI, to report on the number of patients identified with PI; treatment modalities, including immunoglobulins, transplantation, and gene therapy; and data on gender and age. Center Directors also provided physician-reported outcomes and differentials pre- and post-diagnosis. The current physician-reported data reflect an increase in diagnosed patients, as well as those receiving treatment. Suspected patients are being identified and referred so that they can receive early and appropriate diagnosis and treatment. The significant increase in patients identified with a PI is due, in part, to expanding education and awareness initiatives, newborn screening, and the expansion of molecular diagnosis and sequencing. To our knowledge, this is the most extensive single physician report on patients with PI around the world.

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

MUD

Matched unrelated donor

mMUD

Mismatched unrelated donor

MRD

Matched related donor

NBS

Newborn screening

HCUP

Hospital Cost and Utilization Project

AHRQ

Agency for Healthcare Research and Quality

HCCI

Health Care Cost Institute

Notes

Acknowledgements

The authors thank the Jeffrey Modell Center Directors for their generous support and continued commitment to the Jeffrey Modell Foundation and the global primary immunodeficiency communities. We thank Dr. Chaim Roifman, Founder, and Director of the Jeffrey Modell Centers Network, for his vision, and Dr. Jordan Orange for his expertise and guidance.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest except for the following:

Jordan Orange, MD, PhD: Shire Consultant, Grifols Consultant, CSL consultant, received speaking honoraria from Shire, ADMA Scientific Advisory Board, author of the chapter on IVIG in Up to Date for which he receives royalties.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Vicki Modell
    • 1
  • Jordan S. Orange
    • 1
  • Jessica Quinn
    • 1
  • Fred Modell
    • 1
  1. 1.Jeffrey Modell FoundationNew York CityUSA

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