Bustamante, JacintaAksu, GuzideVogt, GuillaumeDe Beaucoudrey, LudovicGenel, FerahChapgier, ArianeFilipe-Santos, OrchideFeinberg, JacquelineEmile, Jean-FrancoisKutukculer, NecilCasanova, Jean-Laurent2019-10-272019-10-2720070091-6749https://doi.org/10.1016/j.jaci.2007.04.034https://hdl.handle.net/11454/39508A 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.en10.1016/j.jaci.2007.04.034info:eu-repo/semantics/closedAccessBCGtuberculosischronic granulomatous diseaseArticle12013238WOS:00024806640000417544093N/AQ1