title: [Disseminated BCG disease revealing a partial deficiency in receptor 1 interferon gamma].
abstract: We report on a case of disseminated BCGitis with an unusual presentation in a 4-month-old infant revealing a syndrome of Mendelian susceptibility to mycobacteria due to a partial dominant mutation of the interferon gamma receptor 1 gene.
authors.affiliation: Service de médecine infantile, hôpital Nord, chemin des Bourrely, 13015 Marseille, France. Electronic address: justine.antonietti@ap-hm.fr.
authors.forename: J
authors.initials: J
authors.lastname: Antonietti
authors.affiliation: Service de médecine infantile, hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
authors.forename: K
authors.initials: K
authors.lastname: Retornaz
authors.affiliation: Service de médecine infantile, hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
authors.forename: A
authors.initials: A
authors.lastname: Bernasconi
authors.affiliation: Service d'accueil des urgences pédiatriques, hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
authors.forename: R-J
authors.initials: RJ
authors.lastname: Laporte
authors.affiliation: Service d'accueil des urgences pédiatriques, hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
authors.forename: P
authors.initials: P
authors.lastname: Minodier
authors.affiliation: Laboratoire de génétique humaine des maladies infectieuses, institut Imagine, 24, boulevard de Montparnasse, 75015 Paris, France.
authors.forename: J-C
authors.initials: JC
authors.lastname: Bustamante
authors.affiliation: Service de médecine infantile, hôpital Nord, chemin des Bourrely, 13015 Marseille, France; Service d'accueil des urgences pédiatriques, hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
authors.forename: J-C
authors.initials: JC
authors.lastname: Dubus
mesh_terms: D000818:Animals; D000995:Antitubercular Agents / Q000627:therapeutic use; D001500:BCG Vaccine / Q000009:adverse effects*; D015415:Biomarkers / Q000097:blood; D002417:Cattle; D006801:Humans; D007223:Infant; D009154:Mutation; D009163:Mycobacterium bovis; D011237:Predictive Value of Tests; D017471:Receptors, Interferon / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D012680:Sensitivity and Specificity; D016896:Treatment Outcome; D014380:Tuberculosis, Bovine / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology / Q000382:microbiology; D014611:Vaccination / Q000009:adverse effects; D014777:Virus Diseases / Q000235:genetics* / Q000276:immunology; D000096743:Interferon gamma Receptor
chemical_list: D000995:Antitubercular Agents; D001500:BCG Vaccine; D015415:Biomarkers; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor