Mendelian susceptibility to mycobacterial infections and defect in macrophages respiratory burst;Prédisposition mendélienne aux infections mycobactériennes et défaut de i'explosion oxydative des macrophages
Tuberculosis in children and adults: Two distinct genetic diseases
DOI 10.1084/jem.20052302
Alcais A, Fieschi C, Abel L, Casanova JL. Tuberculosis in children and adults, two distinct genetic diseases. J Exp Med 2005;202; 1617-21. (Pubitemid 41815866)
IL-12RB1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey
Boisson-Dupuis S, El Baghdadi J, Parvaneh N, et al. IL-12RB1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One 2011;6:el8524.
Inborn errors of IL-12/23- and IFN-γ-mediated immunity: Molecular, cellular, and clinical features
DOI 10.1016/j.smim.2006.07.010, PII S1044532306001047, Human Genetics of Infectious Desiases: Immunological Implications
Filipe-Santos O, Bustamante J, Chapgier A, et al. Inborn errors of IL-12/23-and IFN-gamma-mediated immunity molecular, cellular, and clinical features. Semm Immunol 2006;18:347-61. (Pubitemid 44540199)
A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease
Bustamante J, Picard C, Fieschi C, et al. A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. J Med Genet 2007;44:e65.
Germlme CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
Bustamante J, Anas AA, Vogt G, et al. Germlme CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol 2011;12:213-21.
Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)
Roos D, Kuhns DB, Maddalena A, et al. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Celts Mot Dis 2010;44:291-9.
Chronic granulomatous disease: Report on a national registry of 368 patients
DOI 10.1097/00005792-200005000-00003
Winkelstein JA, Marino MC, Johnston RB, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 2000;79:155-69. (Pubitemid 30327530)
BCG-osis and tuberculosis in a child with chronic granulomatous disease
DOI 10.1016/j.jaci.2007.04.034, PII S0091674907008603
Bustamante J, Aksu G, Vogt G, et al. BCG-osis and tuberculosis in a child with chronic granulomatous disease. J Allergy Clin Immunol 2007;120:32-8. (Pubitemid 46990505)
Quand les polynucléaires neutrophiles attrapent les agents pathogènes dans leurs filets
Gougerot-Pocidalo MA, El Benna J, My-Chan Dang P, Elbim C. Quand les polynucleaires neutrophils attrapent les agents pathogènes dans leurs filets. Med Set (Paris) 2007;23:464-5. (Pubitemid 46826167)