title: Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis.
abstract: An 11-year-old girl who presented with disseminated tuberculosis associated with secondary hemophagocytosis received a diagnosis of interleukin-12 receptor beta 1 chain deficiency. This diagnosis of immunodeficiency should, therefore, be considered for children with disseminated tuberculosis, even in the absence of any personal or familial history of prior infection by weakly pathogenic Salmonella and Mycobacterium species.
authors.affiliation: Department of Pediatrics, Baskent University School of Medicine, Ankara, Turkey.
authors.forename: Namik
authors.initials: N
authors.lastname: Ozbek
authors.forename: Claire
authors.initials: C
authors.lastname: Fieschi
authors.forename: Bafak T
authors.initials: BT
authors.lastname: Yilmaz
authors.forename: Ludovic
authors.initials: L
authors.lastname: de Beaucoudrey
authors.forename: Beyhan
authors.initials: B
authors.lastname: Demirhan
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Feinberg
authors.forename: Yunus Emre
authors.initials: YE
authors.lastname: Bikmaz
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D021122:Protein Subunits / Q000172:deficiency / Q000235:genetics; D018123:Receptors, Interleukin / Q000172:deficiency* / Q000235:genetics; D053707:Receptors, Interleukin-12; D014376:Tuberculosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D021122:Protein Subunits; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12