title: Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.
abstract: We describe 3 siblings with interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency, a known genetic etiology of clinical disease caused by infection with poorly virulent mycobacteria, such as mycobacteria found in bacille Calmette-Guérin (BCG) vaccines and environmental nontuberculous mycobacteria (NTM). One child had disseminated tuberculosis, the second had extraintestinal salmonellosis and pulmonary tuberculosis, and the third remained asymptomatic. IL-12Rbeta1 deficiency should be considered as a diagnosis in patients with severe salmonellosis or tuberculosis, even if they do not have disease due to BCG or NTM.
authors.affiliation: Immunology Unit, Hospital Vall d'Hebron, Barcelona, Spain. iscaur@hg.vhebron.es
authors.forename: Isabel
authors.initials: I
authors.lastname: Caragol
authors.forename: Miquel
authors.initials: M
authors.lastname: Raspall
authors.forename: Claire
authors.initials: C
authors.lastname: Fieschi
authors.forename: Jaqueline
authors.initials: J
authors.lastname: Feinberg
authors.forename: María N
authors.initials: MN
authors.lastname: Larrosa
authors.forename: Manuel
authors.initials: M
authors.lastname: Hernández
authors.forename: Concepción
authors.initials: C
authors.lastname: Figueras
authors.forename: Jose-María
authors.initials: JM
authors.lastname: Bertrán
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Teresa
authors.initials: T
authors.lastname: Español
mesh_terms: D000293:Adolescent; D001500:BCG Vaccine; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D009161:Mycobacterium; D018123:Receptors, Interleukin / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D053707:Receptors, Interleukin-12; D012480:Salmonella Infections / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D014376:Tuberculosis / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology
chemical_list: D001500:BCG Vaccine; C508438:IL12RB1 protein, human; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12