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Journal of Clinical Immunology

, Volume 33, Issue 1, pp 1–7 | Cite as

Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought

  • Ahmed Aziz BousfihaEmail author
  • Leïla Jeddane
  • Fatima Ailal
  • Ibtihal Benhsaien
  • Nizar Mahlaoui
  • Jean-Laurent Casanova
  • Laurent Abel
Original Research

Abstract

Purpose

Primary immunodeficiency diseases (PIDs) comprise at least 176 hereditary disorders that are thought to be individually and collectively rare. The actual prevalence and incidence of PIDs remains unclear, but recent epidemiologic studies have suggested that PIDs are more common than generally thought. Based on these studies, we attempted to estimate the worldwide prevalence and incidence of PIDs.

Methods

Using data from registries and two recent epidemiologic surveys estimating the frequencies of PIDs, we extrapolated the frequencies reported for certain countries to the populations of continents and of the world.

Results

Our upper estimates suggest that six million people may be living with a PID worldwide, whereas only 27,000–60,000 have been identified to date (all national registries and the Jeffrey Modell Centers Network, respectively). For Europe, our upper estimate was 638,000 cases, and 15,052 cases are currently registered (2.27 %). In Africa, up to 902,631 people may have a PID, whereas only 1,016 cases are currently registered. We also found that PIDs were prevalent not only in children, but also in adults, who were strongly underrepresented in registries.

Conclusion

Specific, dedicated epidemiologic studies are required, to obtain more realistic statistics for PIDs and to increase the awareness of physicians and public health systems about these diseases. Furthermore, the field of PIDs is continually growing, and this is likely to lead to a revision of the definition of these conditions, potentially increasing estimates of their impact on both adults and children, at the population level.

Keywords

Primary immunodeficiency prevalence incidence mortality 

Notes

Conflict of Interest

The authors declare that they have no conflict of interest.

Supplementary material

10875_2012_9751_MOESM1_ESM.doc (42 kb)
ESM Table 1 (DOC 41 kb)

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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Ahmed Aziz Bousfiha
    • 1
    Email author
  • Leïla Jeddane
    • 1
    • 2
  • Fatima Ailal
    • 1
  • Ibtihal Benhsaien
    • 1
  • Nizar Mahlaoui
    • 3
  • Jean-Laurent Casanova
    • 3
    • 4
    • 5
  • Laurent Abel
    • 4
    • 5
  1. 1.Clinical Immunology UnitKing Hassan II University, Averroes HospitalCasablancaMorocco
  2. 2.Laboratory of Biochemistry-ImmunologyKing Mohamed V- Agdal UniversityRabatMorocco
  3. 3.Pediatric Immunology-Hematology Unit, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de ParisUniversity Paris DescartesParisFrance
  4. 4.St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller BranchThe Rockefeller UniversityNew YorkUSA
  5. 5.Laboratory of Human Genetics of Infectious Diseases, Necker BranchUniversity Paris Descartes and Inserm U980, Necker Medical SchoolParisFrance

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