Clinical and laboratory profile of children with primary immunodeficiency - Perspective from a developing country

Abstract

Aim: The aim of the study was to describe the clinical and laboratory features of children diagnosed with primary immunodeficiency from India. Background: Primary immunodeficiency disorders (PIDs) are a diverse group of conditions with heterogeneous presentation. Materials and Methods: A retrospective chart review of clinical and laboratory data of 40 children with primary immunodeficiency between 1 month and 18 years of age was carried out. A diagnosis of primary immunodeficiency was made based on the standard criteria. Results: Among the 40 children reviewed, males were more affected than females (1.8:1). Seventy per cent of the patients had onset of symptoms before 1 year of age. Recurrent fever (50%) was the most common presentation. Various infections included pneumonia (45%), gastrointestinal infections (18%), oral thrush (15%), recurrent otitis media (7.5%) and recurrent skin infections (5%). Non-infective complications included neurological manifestations such as developmental delay and seizures (10%), growth failure (38%) and cytopenia. Patients were categorised into combined humoral and cellular immunodeficiency (30%), predominant antibody deficiencies (12%), diseases of immune dysregulation (32%), congenital deficiencies in phagocytes (10%) and deficiencies in innate and intrinsic immunity (15%). A genetic confirmation of the immunodeficiency could be obtained only in half of all patients (49%). Conclusions: Children with PIDs can present with typical manifestations such as recurrent life-threatening infections or may have more unusual presentations such as cytopenia or unexplained growth failure.

Keywords

• genotype
• immune system
• infections
• malnutrition