The prevalances and patient characteristics of primary immunodeficiency diseases

Objective: In this study, we aimed to record demographic features and laboratory resulth of patients with primary immunodeficiency who are followed by Çukurova University Medicine Faculty Hospital Pediatric Department of Pediatric Immunology and Allergy. Material and Method: In this study, 192 children with primary immunodeficiency who admitted to Çukurova University Medicine Faculty Hospital Pediatric Department of Pediatric Immunology and Allergy since june 2014 were evaluated retrospectively. The study protocol was approved by the Medical Ethics Committee of the Çukurova University Medicine Faculty and used ESID (The European Society for Immunodeficiencies) and IUIS (The International Union of Immunological Societies) criteria. We recorded patients'demographic features like age, gender, the age of symptoms, the age at diagnosis, clinical features, family history and laboratory results. At the same time we recorded consanguinity, is there another person who has primary immunodeficiency desease in family, is there dead person with primary immunodeficiency desease in family, clinical manifestations. Laboratory analyses included complete blood count, peripheral blood smear, measurement of serum immunoglobulins, lymphocyte proliferation test, absolute lymphocyte count, absolute neutrophil count, radiologic abnormality, treatment, prognosis. CT or HRCT scaned to the patient who recurrent respiratory system infection. Analyses included delayed cutaneous hypersensitivity, spesific IgE and skin prick test results. Results: The average age at diagnosis was 56.6 months and differed between 1 and 192 months. 114 (%59,4) of the patients were boys and 78 (%40,6) were girls. 42 (%21,9) of the patients from rural, 150 (%78,1) ) of the patients from urban. %33.3 of patients (n:64) had the most common immunodeficiency due to antibody deficiency. The ratios of the other immunodeficiencies were severe combined immunodeficiency % 16,1 (n:31), other welldefined immunodeficiency syndromes %30,7 (n:59), regulation defects of immun system %1 (n:2), defects of phagocytic system %15,1 (n:29), defects in innate immunity %3,6(n:7). %22,9 of patients (n:44) had the most common subgroup of immunodeficiency due to ataxia telangiectasia. Parental consanguinity ratio of our patients was %9,8 (n:19). The most common parental consanguinity severe congenital neutropenia, Ig A deficiency at least. The most common clinical manifestation recurrent respiratory system infection in %38,5, The most common symptoms gait disturbance in %21. Conclusion: Promoting the awareness of PID among the medical professionals and the general public is required if premature death and serious morbidity occurs due to late diagnosis of the wider spectrum of PID are to be avoided. Key words: Primary immunodeficiency, Laboratory, Demographic Features.