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

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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.

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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

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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.

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Authors and Affiliations

  1. Jeffrey Modell Foundation, 780 Third Avenue, 47th Floor, New York City, NY, 10017, USA

    Vicki Modell, Jordan S. Orange, Jessica Quinn & Fred Modell

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  1. Vicki Modell
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  2. Jordan S. Orange
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  4. Fred Modell
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Correspondence to Fred Modell.

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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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Modell, V., Orange, J.S., Quinn, J. et al. Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes. Immunol Res 66, 367–380 (2018). https://doi.org/10.1007/s12026-018-8996-5

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  • DOI: https://doi.org/10.1007/s12026-018-8996-5

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