Screening for Primary immunodeficiency in Egyptian children with repeated infections

Despite efforts, primary immunodeficiency disorders (PIDs) are still under estimated. Predominantly antibody deficiencies (PADs) account for approximately two-thirds of all PIDs. We sought to screen for immunoglobulin deficiency among Egyptian infants and children presenting with unusually recurrent, severe and/ or persistent infections. Methods We conducted a cross sectional study that included 75 children presenting with clinical history and/or features suggestive of immunodeficiency. They were enrolled from Children’s Hospitals of Ain Shams and Mansoura Universities. They were subjected to clinical evaluation and measurement of serum immunoglobulin (Ig) levels: IgA, IgG and IgM (by nephelometry) and IgE (by ELISA). Results Patients’ ages ranged between 0.5-14 years (median (IQR): 2(0.83-3) with male to female ratio 2:1. Pneumonia was the most common infection (84%) followed by gastroenteritis (64%). Eleven patients (14.7%) had allergic manifestations and three (4%) had suppurative lung disease. Duration of infections per year ranged 3-150 days (median (IQR): 65(60-90), with average of 5 times hospitalization per year. Eighteen (24%) patients had failure to thrive and 21 patients (28%) had absent BCG scar. According to immunological evaluation, 7 patients (9.3%) had combined immunodeficiency, 4 (5%) had agammaglobulinemia, 2 (2.5%) had hypogammaglobulinemia, 2 (2.5%) had Hyper-immunoglobulin E syndrome and one had HIV infection. Patients without B cell defects had significantly higher frequency infection and hospitalization per year compared to those with B cell defects (p = 0.017 and 0.019 respectively). Conclusion: Primary immunodeficiency disorders are not rare. The awareness of families and primary health care physicians is crucial in the establishment of early diagnosis and initiation of appropriate therapy.