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Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery

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Abstract

Primary immunodeficiencies (PI) are defects of the immune system that cause severe infections if not diagnosed and treated appropriately. Many patients with PI are undiagnosed, under-diagnosed, or misdiagnosed. Over the last decade, the Jeffrey Modell Foundation has implemented a Physician Education and Public Awareness Campaign (PEPAC) to raise awareness, assure early diagnosis, appropriate treatment, and management, with the overall goal to reduce morbidities and mortalities related to PI. In order to evaluate the PEPAC program, data are requested annually from physician experts within the Jeffrey Modell Centers Network (JMCN). The JMCN, consisting of 556 expert physicians, at 234 academic institutions, in 196 cities, and 78 countries spanning six continents, provides the infrastructure for referral, diagnosis, and appropriate treatment for patients with PI. In addition, the JMCN has made a significant contribution to the field of immunology with the discovery of new genes at the centers. These advancements have led to an overall better understanding of the immune system and will continue to improve quality of life of those with PI.

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Abbreviations

PI:

Primary immunodeficiencies

JMF:

The Jeffrey Modell Foundation

PEPAC:

Physician Education and Public Awareness Campaign

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

WAS:

Wiskott–Aldrich syndrome

MUD:

Matched unrelated donors

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Correspondence to Fred Modell.

Appendices

Appendix 1

See Table 9.

Table 9 Patients with identified PI defects—global data

Appendix 2

See Table 10.

Table 10 Patients identified with PI defects by region

Appendix 3

See Table 11.

Table 11 PI defects listed by prevalence (90 out of 200 defects listed)

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Modell, V., Knaus, M., Modell, F. et al. Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery. Immunol Res 60, 132–144 (2014). https://doi.org/10.1007/s12026-014-8498-z

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