title: Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.
abstract: Patients with interleukin 12 (IL-12)p40 or IL-12 receptor β1 (IL12Rβ1) deficiencies are prone to develop infections caused by mycobacteria and salmonella; other infections have only been rarely observed. In this report we describe 2 unrelated patients with complete autosomal recessive IL12Rβ1 deficiency who suffered from sepsis attributable to Klebsiella pneumoniae. A Mexican boy suffered from disseminated bacille Calmette-Guérin disease and infections caused by K pneumoniae and Candida albicans and had a fatal outcome. A Turkish girl living in France suffered from disseminated Nocardia nova infection and K pneumoniae sepsis. Therefore, Klebsiella infections should be considered in patients with IL12Rβ1 deficiency. Conversely, IL12Rβ1 deficiency should be considered in patients with unexplained klebsiellosis.
authors.affiliation: Unit of Biochemistry, National Institute for Medical Sciences and Nutrition Salvador Zubiran, Mexico City, Mexico. spedraza@rocketmail.com
authors.forename: Sigifredo
authors.initials: S
authors.lastname: Pedraza
authors.forename: Jose Luis
authors.initials: JL
authors.lastname: Lezana
authors.forename: Arina
authors.initials: A
authors.lastname: Samarina
authors.forename: Ruth
authors.initials: R
authors.lastname: Aldana
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Herrera
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Boisson-Dupuis
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.forename: Perle
authors.initials: P
authors.lastname: Pages
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
mesh_terms: D001500:BCG Vaccine / Q000009:adverse effects; D002177:Candidiasis / Q000150:complications; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D053711:Interleukin-12 Receptor beta 1 Subunit / Q000235:genetics*; D007710:Klebsiella Infections / Q000150:complications / Q000235:genetics*; D007711:Klebsiella pneumoniae; D008297:Male; D009154:Mutation; D009163:Mycobacterium bovis; D009617:Nocardia Infections / Q000150:complications; D018805:Sepsis / Q000235:genetics*; D014388:Tuberculosis, Lymph Node / Q000150:complications
chemical_list: D001500:BCG Vaccine; D053711:Interleukin-12 Receptor beta 1 Subunit