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Keywords:

  • primary immunodeficiency disease;
  • major immunodeficiency groups;
  • rare diseases;
  • autosomal recessive diseases;
  • Turkey

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.