Primary immunodeficiency diseases in children: 15 year experience in a tertiary care medical center in Qatar.

BACKGROUND

Primary immunodeficiency diseases (PID) are a group of heterogeneous, rare, genetic, mainly childhood disorders that affect specific components of immune system leading to serious complications.

OBJECTIVES

This study is aimed at describing the prevalence and the categories of PID, the ages of onset and the diagnosis, the clinical presentations, the treatment modalities and the overall outcome of affected patients.

MATERIALS AND METHODS

A retrospective study was conducted on 131 pediatric patients (aged 0-14 years) diagnosed with PID at Hamad General Hospital during a 15-year period (1998-2012).

RESULTS

Data of 131 patients (75 males & 56 females) was analyzed with an estimated prevalence of 4.7 PID patients per 100,000 children younger than 14 years of age. The most common type of PID was predominantly antibody deficiency (23.7 %), followed by other well-defined immunodeficiency syndromes (22.9 %), 19.1 % combined T and B cell immunodeficiency, but rare CVID, and no cases of complement deficiency. The mean onset age was 24.01 months and diagnosis age was 42.2 months. Recurrent infections, particularly pneumonia (48.9 %), failure to thrive (34.4 %), otitis media (26 %), sepsis (23.7 %), and chronic diarrhoea (21.4 %) were commonest presenting conditions. P. aeruginosa (15.7 %), Salmonella species (13.2 %), and Non-TB mycobacteria (13.2 %) were the most common bacterial isolates. The overall mortality rate was 21.4 % with combined immunodeficiency's accounting for 53.4 % of deaths.

CONCLUSIONS

This study reveals that PIDs are not rare in children in Qatar; and like other studies predominantly antibody deficiencies are the most common. Strategies that reinforce awareness and education of practicing physicians, bone marrow transplantation, and establishing PID national registry should be adopted to reduce mortality and morbidity of PID patients in Qatar.