ABSTRACT

Primary immunodeficiency syndromes (PID) are rare disorders caused by genetic defects affecting development and function of adaptive and/or innate immunity. The most frequent presenting feature of PID in children is infection. However, only approximately 10% of children referred with recurrent infections have a demonstrable immunodeficiency. Management of children affected by PIDs includes supportive and corrective treatment. Supportive measures focus on prevention and treatment of infection; non-infective complications may require anti-inflammatory and/or immunosuppressive treatment. All children affected by primary immunodeficiency should be monitored regularly in a specialist paediatric immunology centre. The immunophenotype can predict the likely underlying molecular defect. Serum immunoglobulin levels may be helpful although they are variable in young infants and confounded by the presence of maternal IgG in infants less than 6 months of age. Inflammatory skin disease may require immunosuppression with steroids and/or ciclosporin. Wiskott–Aldrich syndrome typically consists of the triad of thrombocytopenia, atypical eczema and immunological abnormalities.