Clinical and epidemiological characteristics of patients with suspected primary immunodeficiency disorders attending Alexandria University Children's Hospital

ABSTRACT

Background: Current study was conducted to determine the clinical and epidemiological characteristics of patients with suspected primary immunodeficiencies (PID) seen at Alexandria University Children's Hospital.Methods: Eighty one patients with suspected PID were seen at Alexandria University Children's Hospital in one year in the period from September 2016 to October 2017. Demographic data of the patients as well as data related to their disease status were taken and evaluation sheet was developed for all patients.Results: About 61.7% of patients satisfied the criteria of PID based on WHO Scientific Committee. According to modified IUIS classification predominant antibody deficiency was the commonest (34%) followed by other well defined immunodeficiency syndromes (30%), combined immunodeficiencies (16%), phagocytic defects (14%), diseases of immune dysregulation 4% and complement deficiencies (2%). The most frequent disorder was X-linked agammagloulinemia (XLA) (22%). The mean age at diagnosis was 27.4 months. The consanguinity rate was 55.5%. A positive Family history was a strong pointer to diagnosis for PID (46.9%). The commonest clinical presentation was pneumonia (82.7%). 28.4% of patients died from infections. As observed in other patient registries, diagnostic delay remains the major cause of morbidity and mortality.Conclusions: Primary immunodeficiency disorders are not rare in Egyptian children. Creating awareness of PID should be targeted at hospital pediatricians and families with history of PID and this may reveal more cases within the community. The observed high frequency of combined T- and B-cell immunodeficiencies in this cohort made it a health issue in Egypt as in other developing countries.