Retrospective Evaluation of Patients with Primary Immunodeficiency: Five Years of Experience

Objective: This study aimed to gain a better understanding of the features of patients with primary immune deficiency diseases/inborn errors of immunity (PID/IEI) in our region. Materials and Methods: In this study, the medical records of 1163 patients with IEI who had been followed up for 5 years were retrospectively reviewed. Results: Of the patients, 714(61.3%) were boys and 449(38.6%) were girls. The mean age of diagnosis and diagnostic delay were found as 56.5 and 27.4 months, respectively. Immune deficiency linked to antibody deficiency comprised 90.2%(n= 1049)of all patients. The ratio and incidence of severe combined immunodeficiency(SCID) were 2.1% and approximately one in 10000 live-birth, respectively. The Complaints of respiratory tract infection and otitis media were significantly higher (p<0.05). The consanguinity percentage was 31.8%. First-degree cousin marriage was significantly higher in congenital defects of phagocyte, immune dysregulation, and combined immune deficiency than in other IEIs (p<0.05 ). The history of death of a previous sibling was 12.3%, IEI in the family was 10%, and growth and development retardation was 7.3% among our patients. While complete blood cell count(CBC) resulted in frequencies of anemia of 17.2%, neutropenia of 3.2%, lymphopenia of 5%, and thrombocytopenia of 1.9% in all patients, the lymphopenia ratio was 87% in those with SCID. Due to recurrent infections, 95.6% of patients were administered trimethoprim/sulfamethoxazole prophylaxis, and 5.8% received intravenous immunoglobulin replacement therapy. Forty-two percent of all patients were diagnosed with asthma during clinical follow-up, and chronic lung pathology was found in 7.8% of the patients. Conclusion: This study reveals that primary immune deficiency frequency was found higher in Konya city than the stated prevalence in literature and consanguinity among parents may be a remarkable factor and the presence of lymphopenia may be a remarkable feature for SCID.