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Year : 2021  |  Volume : 11  |  Issue : 6  |  Page : 262-268

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

1 Department of Pediatrics, St. Johns Medical College Hospital, Bengaluru, Karnataka, India
2 Division of Pediatric Hematology and Oncology, St. Johns Medical College Hospital, Bengaluru, Karnataka, India
3 Department of Pediatrics, Aster CMI Hospital, Bengaluru, Karnataka, India

Correspondence Address:
Dr. Ranjini Srinivasan
Department of Pediatrics, St. Johns Medical College Hospital, Bengaluru - 560 034, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/cmrp.cmrp_74_21

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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.

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