Preferred citation: Sanal, O. & I. Tezcan. 2011. Thirty years of primary immunodeficiencies in Turkey. In “The Year in Human and Medical Genetics: Inborn Errors of Immunity I.” Jean-Laurent Casanova, Mary Ellen Conley & Luigi Notarangelo, Eds. Ann. N.Y. Acad. Sci. 1238: 15–23.
Thirty years of primary immunodeficiencies in Turkey
Version of Record online: 30 NOV 2011
© 2011 New York Academy of Sciences.
Annals of the New York Academy of Sciences
Volume 1238, The Year in Human and Medical Genetics: Inborn Errors of Immunity I pages 15–23, November 2011
How to Cite
Sanal, O. and Tezcan, I. (2011), Thirty years of primary immunodeficiencies in Turkey. Annals of the New York Academy of Sciences, 1238: 15–23. doi: 10.1111/j.1749-6632.2011.06242.x
- Issue online: 30 NOV 2011
- Version of Record online: 30 NOV 2011
- primary immunodeficiency disease;
- major immunodeficiency groups;
- rare diseases;
- autosomal recessive diseases;
Turkey, with its population of some 75 million, has a high rate of consanguineous marriages. Because the majority of the primary immunodeficiencies (PIDs) are inherited as autosomal recessive (AR) forms, the high consanguinity rate leads to a high prevalence of PID diseases in Turkey. The first pediatric immunology division was established in 1972, since then over 10 other immunology divisions have been established in different cities. Approximately 4,000 patients with possible PID are referred to these centers annually. The percentages of some of the major immunodeficiency groups and individual disease numbers among these patients differ somewhat in comparison with Western countries, likely because the relative incidences of PIDs with AR inheritance and of rare diseases are higher. These characteristics of the patient population, and our determination of differences in disease presentation and unusual features, have led us to undertake studies in collaboration with various centers in Western countries. These collaborations have contributed to the identification of the genes responsible for some rare immunodeficiencies, to the resolution of the genetic heterogeneity underlying conventional phenotypes, and to the description of new clinical phenotypes.