Primary immunodeficiency diseases in Singapore--the last 11 years.

OBJECTIVES: To describe the clinical features, disease complications, treatment modalities and overall outcome of 39 local patients with Primary Immunodeficiency Diseases (PID) in Singapore over the last 11 years.

METHODS: Paediatric and adult patients who presented to the The Children's Medical Institute, National University Hospital, Tan Tock Seng Hospital and KK Women's and Children's Hospital between January 1990 and December 2000 were identified. Their diagnoses were categorised into six groups according to the IUIS (International Union of Immunological Societies, affiliated to World Health Organisation) classification: antibody deficiencies, combined immunodeficiencies, immunodeficiencies associated with other major defects, congenital phagocytic defects, complement deficiencies and other well-defined immunodeficiency syndromes. Patients were selected from screening of inpatients with discharge diagnoses associated with primary immunodeficiency and of patients undergoing tests for immunodeficiency. Patient data were collated from case files and compiled using a standard questionnaire.

RESULTS: There were 39 Singaporean patients diagnosed and treated for PID during the study period. The age at diagnosis ranged from three weeks to 69 years. Antibody deficiency (41%) was the most common form of PID. Seven patients had a family history of PID. Recurrent bacterial respiratory tract infections were the most common clinical manifestation. Associated conditions included autoimmune diseases, allergies and malignancies. Infection was the commonest cause of mortality. Eighteen patients (46.2%) with antibody or combined deficiencies received regular intravenous immunoglobulin (IVIG) as the primary treatment modality. Two children successfully received sibling-matched haematopoietic stem cell transplantation (HSCT).

CONCLUSIONS: Antibody deficiencies are the most common form of PID in Singapore. Treatment with antibiotics, IVIG and HSCT are the main therapeutic modalities currently available. Early referral to an immunologist is needed to achieve good outcomes.