BCG-osis and tuberculosis in a child with chronic granulomatous disease


BUSTAMANTE J., Aksu G. , VOGT G., DE BEAUCOUDREY L., GENEL F., CHAPGIER A., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.120, no.1, pp.32-38, 2007 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 120 Issue: 1
  • Publication Date: 2007
  • Doi Number: 10.1016/j.jaci.2007.04.034
  • Title of Journal : JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Page Numbers: pp.32-38

Abstract

A few known primary immunodeficiencies confer predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines (regional disease, known as BCG-itis, or disseminated disease, known as BCG-osis), or more virulent mycobacteria, such as Mycobacterium tuberculosis (pulmonary and disseminated tuberculosis). We investigated the clinical and genetic features of a 12-year-old boy with both recurrent BCG-osis and disseminated tuberculosis. The patient's phagocytic cells produced no 0(2)(-). A hemizygous splice mutation was found in intron 5 of CYBB, leading to a diagnosis of X-linked chronic granulomatous disease. Chronic granulomatous disease should be suspected in all children with BCG-osis, even in the absence of nonmycobacterial infectious diseases, and in selected children with recurrent BCG-itis or severe tuberculosis.