BCG-osis and tuberculosis in a child with chronic granulomatous disease Jacinta Bustamante, MD, PhD, Guzide Aksu, MD, Guillaume Vogt, PhD, Ludovic de.

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BCG-osis and tuberculosis in a child with chronic granulomatous disease Jacinta Bustamante, MD, PhD, Guzide Aksu, MD, Guillaume Vogt, PhD, Ludovic de Beaucoudrey, MS, Ferah Genel, MD, Ariane Chapgier, MS, Orchidée Filipe-Santos, PhD, Jacqueline Feinberg, PhD, Jean-François Emile, MD, PhD, Necil Kutukculer, MD, Jean- Laurent Casanova, MD, PhD Journal of Allergy and Clinical Immunology Volume 120, Issue 1, Pages 32-38 (July 2007) DOI: 10.1016/j.jaci.2007.04.034 Copyright © 2007 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Cervical lymph node biopsy. Histologic section showing granuloma with epithelioid and giant cells with caseous necrosis. Hematoxylin and eosin staining (×40). Journal of Allergy and Clinical Immunology 2007 120, 32-38DOI: (10.1016/j.jaci.2007.04.034) Copyright © 2007 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 Investigation of NADPH pathway. Superoxide production in PMNs. Granulocytes from a normal control (C[+]), a patient with CGD (C[−]), the proband (P), and his mother (M) were activated with 40 ng/mL PMA for 30 minutes. NS, Not stimulated. Journal of Allergy and Clinical Immunology 2007 120, 32-38DOI: (10.1016/j.jaci.2007.04.034) Copyright © 2007 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 3 Intronic mutation in the CYBB gene. A, Schematic diagram of the relevant region in the CYBB gene. The crytic exons separating exons 4 and 5 and exons 4 and 6 are derived from intron 5 sequences. B, Predicted amino acid sequences showing the additional exons resulting in the premature termination of translation. C, Analysis of the genomic sequence of the CYBB gene. The patient carries a G>T mutation at position + 978 in intron 5. Genomic DNA was extracted from peripheral blood samples taken from a normal control (C) and the patient (P). D, Pedigree of the family. Each generation is designated by a Roman numeral (I, II), and each individual is represented as an Arabic numeral. The proband is represented by a black symbol and indicated by an arrow. The mother is an obligate carrier and is represented by the circle with a black arrow. Journal of Allergy and Clinical Immunology 2007 120, 32-38DOI: (10.1016/j.jaci.2007.04.034) Copyright © 2007 American Academy of Allergy, Asthma & Immunology Terms and Conditions