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Pulmonary diseases in children with severe combined immune deficiency and DiGeorge syndrome
J Deerojanawong1, A B Chang, P A Eng
1Department of Thoracic Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.
Insights
Pulmonary disease is common in children with T-cell immunodeficiencies like severe combined immune deficiency (SCID) and DiGeorge syndrome. Early and late lung complications significantly contribute to illness and death in these patients.
Area of Science:
- Pediatric Pulmonology
- Immunology
- Infectious Diseases
Background:
- T-cell immunodeficiencies frequently present with or lead to pulmonary disease.
- Severe combined immune deficiency (SCID) and DiGeorge syndrome are primary T-cell disorders with significant respiratory implications.
Purpose of the Study:
- To investigate the prevalence and types of pulmonary disease in children with SCID and DiGeorge syndrome.
- To identify common pathogens and complications associated with lung disease in these pediatric populations.
Main Methods:
- Retrospective review of 15 children with SCID and 19 with DiGeorge syndrome.
- Analysis of presenting features, causative organisms, and late pulmonary complications from 1981 to 1995.
Main Results:
- Pulmonary disease was a common presenting feature (67%) in SCID, with Pneumocystis carinii pneumonia (PCP) and bacterial/viral infections being frequent. Late complications included lower respiratory tract infections and lymphointerstitial pneumonitis.
- Pulmonary complications contributed to mortality in 5 of 9 SCID deaths. In DiGeorge syndrome, while not a primary presenting feature, pulmonary complications like recurrent infections and bronchomalacia were common.
- Effective prophylaxis likely reduced late PCP occurrences in SCID.
Conclusions:
- Pulmonary disease is a significant manifestation and complication in children with SCID and DiGeorge syndrome.
- Early identification and management of lung infections and complications are crucial for improving outcomes in these immunocompromised children.
- Pulmonary morbidity and mortality are substantial concerns in both SCID and DiGeorge syndrome.
Abstract:
Pulmonary disease is a common presenting feature and complication of T-cell immunodeficiency. We retrospectively reviewed 15 children with severe combined immune deficiency (SCID) and 19 children with DiGeorge syndrome at the time of their first presentation to the Royal Children's Hospital in the 15-year period from 1981 to 1995. In children with SCID, pulmonary disease was a common (67%) presenting feature and the organisms identified were Pneumocystis carinii (PCP) (n = 7), bacteria (n = 4), viruses (n = 3), and a fungus (n = 1). Late pulmonary complications included lower respiratory tract infections, bronchiolitis obliterans, and lymphointerstitial pneumonitis. Pulmonary infections were common (17 occasions) and the organisms identified were bacteria (n = 7), viruses (n = 6), fungi (n = 3), and Mycobacterium tuberculosis (n = 1). Pulmonary complications were responsible for 5 of 9 deaths. PCP was not identified as a late complication in any child, presumably as a result of effective prophylactic therapy. Although pulmonary disease was not a major presenting feature in children with DiGeorge syndrome, pulmonary complications were common. These included recurrent bacterial and viral infections and bronchomalacia, which complicated management and predisposed to morbidity and mortality, even in those without a T-cell defect. We conclude that pulmonary disease is a common manifestation in children with SCID and DiGeorge syndrome.