The general characteristics of our patients with primer immunodeficiency

Abstract

In this study, we aimed to identify the general characteristics of the patients who came to our department with primer immunodeficiency (PII) between 1993-200. We analyzed the medical files of the patients with PII followed up between 1993-2003 retrospectively. A total of 53 patients had PII. There were 31 males (58.5%), and 22 females (41.5%). The average age for the onset of symptoms was 5.8 months and the average age of the time of referral was 15.8 months. Of these patients, 32 (60.4%)had humoral immunodeficiency, 18 had (33.1%) T-cell immunodeficiency, and 3 had (5.6%) had phagocytic system dysfunction. The types of humoral immunodeficiencies were as follow; 11 patients had IgG subclass deficiency, 7 sIgA deficiency, 4 transient hypogammaglobulinemia of infancy, 4 X-linked agammaglobulinemia, 4 common variable immunodeficiency, and 2 autosomal hyper-IgM syndrome. Of the patients with T-cell deficiency, 7 had ataxia-telangiectasia, 5 SCID, 3 X-linked hyper-IgM syndrome, 2 Wiskott-Aldrich syndrome, and 1 DiGeorge. In phagocyte deficiency, 2 patients had Chediac-Higashi syndrome and 1 had LAD. Infection diseases of the patients according to their frequency were as follows; recurrent upper airway infections, lower recurrent lower airway infections, gastroenteritis, skin infections, deep layer apse, candidiasis, meningitis and septic arthritis. In conclusion, we found the humoral immunodeficiencies as the most common primary immunodeficiency disease, which is consistent with results in the literature. However, we believe that our results may not reflect the actual frequency and types of immunodeficiencies as most patients die without diagnosis or wrong diagnosis.