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

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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.

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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

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

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Acknowledgments

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. Luigi Notarangelo and Dr. Jordan Orange for their expertise and guidance in reviewing this manuscript.

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Authors and Affiliations

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

    Vicki Modell, Jessica Quinn & Fred Modell

  2. Texas Children’s Hospital, Baylor College of Medicine, Houston, TX, USA

    Jordan Orange

  3. Children’s Hospital Boston, Harvard Medical School, Boston, MA, USA

    Luigi D. Notarangelo

Authors
  1. Vicki Modell
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  2. Jessica Quinn
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  3. Jordan Orange
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  4. Luigi D. Notarangelo
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  5. Fred Modell
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Corresponding author

Correspondence to Fred Modell.

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Modell, V., Quinn, J., Orange, J. et al. Primary immunodeficiencies worldwide: an updated overview from the Jeffrey Modell Centers Global Network. Immunol Res 64, 736–753 (2016). https://doi.org/10.1007/s12026-016-8784-z

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