Pulmonary diseases in children with severe combined immune deficiency and DiGeorge syndrome

Pediatr Pulmonol. 1997 Nov;24(5):324-30. doi: 10.1002/(sici)1099-0496(199711)24:5<324::aid-ppul4>3.0.co;2-i.

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.

MeSH terms

  • CD4 Lymphocyte Count
  • Causality
  • Cause of Death
  • DiGeorge Syndrome / complications*
  • DiGeorge Syndrome / immunology
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Lung Diseases / etiology*
  • Lung Diseases / microbiology
  • Lymphocyte Count
  • Male
  • Recurrence
  • Retrospective Studies
  • Severe Combined Immunodeficiency / complications*
  • Severe Combined Immunodeficiency / immunology
  • T-Lymphocytes / immunology*