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
References
Modell V. The impact of physician education and public awareness on early diagnosis of primary immunodeficiencies. Immunol Res. 2007;38:43–7.
Modell F. Immunology today and new discoveries: building upon legacies of Dr. Robert A. Good. Immunol Res. 2007;38:48–50.
Cunningham-Rundles C, Ponda PP. Molecular defects in T- and B-cell primary immunodeficiency diseases. Nat Rev Immunol. 2005;5:880–92.
Cooper MA, Pommering TL, Korányi K. Primary immunodeficiencies. Am Fam Physician. 2003;68:2001–8.
Bousifiha AA, Jeddane L, Ailal F, Benhsaien I, Mahlaoui N, Casanova JL, Abel L. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol. 2013;33(1):1–7.
U.S. Department of Health and Human Services. National Institutes of Health. PAR-12-036: Investigations on Primary Immunodeficiency Diseases (R01). grants.nih.gov/grants/guide/pa-files/PAR-12-036.html. Retrieved 14 June 2013.
Modell V, Gee B, Lewis DB, Orange JS, Roifman CM, Routes JM, Sorensen RU, Notarangelo LD, Modell F. Global study of primary immunodeficiency diseases (PI)—diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunol Res. 2011;51:61–70.
Modell F, Puente D, Modell V. From genotype to phenotype. Further studies measuring the impact of a Physician Education and Public Awareness Campaign on early diagnosis and management of Primary Immunodeficiencies. Immunol Res. 2009;44(1–3):132–49.
Milner JD, Holland SM. The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases. Immunology. 2013;13:635–48.
Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarström L, Nonoyama S, Notarangelo LD, Ochs HD, Puck JM, Roifman CM, Seger R, Tang ML. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2011;8(2):54.
Wood P, Stanworth S, Burton J, Jones A, Peckham DG, Green T, Hyde C, Chapel H. UK Primary Immunodeficiency Network. Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review. Clin Exp Immunol. 2007;149:410–23.
Cunningham-Rundles C. Key aspects for successful immunoglobulin therapy of primary immunodeficiencies. Clin Exp Immunol. 2011;164(Suppl 2):16–9.
Lucas M, Lee M, Lortan J, Lopez-Granados E, Misbah S, Chapel H. Infection outcomes in patients with common variable immunodeficiency disorders: relationship to immunoglobulin therapy over 22 years. J Allergy Clin Immunol. 2010;125(1354–1360):e4.
Ballow M. Primary immunodeficiency disorders: antibody deficiency. J Allergy Clin Immunol. 2012;109(4):581–91.
Casanova JL, Abel L. Primary immunodeficiencies: a field in its infancy. Science. 2007;317:617–9.
Ochs HD, Hitzig WH. History of primary immunodeficiency diseases. Curr Opin Allergy Clin Immunol. 2012;12:577–87 SCIG IVIG.
Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O’Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT. Workshop participants. Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol. 2009;124(1152–60):e12.
Gennery AR, Slatter MA, Grandin L, Taupin P, Cant AJ, Veys P, Amrolia PJ, Gaspar HB, Davies EG, Friedrich W, Hoenig M, Notarangelo LD, Mazzolari E, Porta F, Bredius RG, Lankester AC, Wulffraat NM, Seger R, Güngür T, Fasth A, Sedlacek P, Neven B, Blanche S, Fischer A, Cavazzana-Calvo M, Landais P; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation; European Society for Immunodeficiency. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol. 2010;126:602.e1-11–610.e1-11.
Boztug K, Schmidt M, Schwarzer A, Banerjee PP, Díez IA, Dewey RA, Böhm M, Nowrouzi A, Ball CR, Glimm H, Naundorf S, Kühlcke K, Blasczyk R, Kondratenko I, Maródi L, Orange JS, von Kalle C, Klein C. Stem-cell gene therapy for the Wiskott–Aldrich syndrome. N Engl J Med. 2010;363(20):1918–27. doi:10.1056/NEJMoa1003548.
Auiti A, Biasco L, Scaramuzza S, Ferrua F, Cicalese MP, Baricordi C, Dionisio F, Calabria A, Giannelli S, Castiello MC, Bosticardo M, Evangelio C, Assenelli A, Casiraghi M, Di Nunzio S, Callegaro L, Benati C, Rizzardi P, Pellin D, Di Serio C, Schmidt M, Von Kalle C, Gardner J, Mehta N, Neduva V, Dow DJ, Galy A, Miniero R, Finocchi A, Metin A, Banerjee PP, Orange JS, Galimberti S, Valsecchi MG, Biffi A, Montini E, Villa A, Ciceri F, Roncarolo MG, Naldini L. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott–Aldrich syndrome. Science. 2013;41(6148):1233151. doi:10.1126/science.1233151.
Markert ML, Devlin BH, McCarthy EA. Thymus transplantation. Clin Immunol. 2010;135:236–46.
Dalal I, Reid B, Doyle J, Freedman M, Calderwood S, Saunders F, Roifman CM. Matched unrelated bone marrow transplantation for severe combined immunodeficiency. Bone Marrow Transplant. 2000;25(6):613–21.
Roifman CM, Grunebaum E, Dalal I, Notarangelo LD. Matched unrelated bone marrow transplant for severe combined immunodeficiency. Immunol Res. 2007;38:191.
Grunebaum E, Notarangelo LD, Roifman CM. Successful correction of severe combined immune deficiency following transplantation with bone marrow from HLA-matched unrelated donors. Ital J Pediatr. 2007;33:24–6.
Bharat ST, Alizadehfar R, Desrosiers M, Shuster J, Pant N, Tsoukasa CM. Adult primary immune deficiency: what are we missing? Am J Med. 2012;125(8):779–86.
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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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DOI: https://doi.org/10.1007/s12026-014-8498-z