title: Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections.
abstract: Clinical disease caused by weakly pathogenic mycobacterial species, Mycobacterium bovis Bacille Calmette-Guérin (BCG) and non-tuberculous environmental mycobacteria (EM), which is known as Mendelian susceptibility to mycobacterial disease (MSMD), is a rare entity defined recently. Infections with the more virulent Mycobacterium species, M. tuberculosis, may have largely gone unnoticed in these patients due to early death. Mutations in five proteins (IFNgammaR1, IFNgammaR2, IL-12/IL-23Rbeta1, IL-12/IL-23p40 and STAT1) have been found in MSMD. These patients are prone to surprisingly few other infectious diseases mainly to salmonellosis. Here we present three IL-12/IL-23Rbeta1 deficient patients from three different families and with different genetic mutations, who presented exclusively with Salmonella infections. Bacteremia and lymph node involvement were common clinical expressions. Leukocytoclastic vasculitis developed in one of these patients. Two patients were not inoculated with BCG, the third patient did not develop BCG infection although BCG vaccine had been given twice at ages of 1 and 7 years. All three patients responded well to antibiotic treatment. In conclusion, patients with chronic, recurrent or complicated Salmonella infections should be screened for MSMD, particularly for IL-12/IL-23p40/IL-12R/-23Rbeta1 deficiency. Conversely, in patients with genetic IL-12/-23Rbeta1 deficiency a full evaluation for Salmonella infection is required. IL-12/IL-23p40/IL-12R/IL-23Rbeta1 deficiency seem to be underdiagnosed in patients with salmonellosis, and since such patients need prolonged therapy, diagnosis is important.
authors.affiliation: Immunology Division, Hacettepe University Children's Hospital, Ankara, Turkey.
authors.forename: Ozden
authors.initials: O
authors.lastname: Sanal
authors.forename: Tuba
authors.initials: T
authors.lastname: Turul
authors.forename: Tijtske
authors.initials: T
authors.lastname: De Boer
authors.forename: Esther
authors.initials: E
authors.lastname: Van de Vosse
authors.forename: Işik
authors.initials: I
authors.lastname: Yalcin
authors.forename: Ilhan
authors.initials: I
authors.lastname: Tezcan
authors.forename: Cağman
authors.initials: C
authors.lastname: Sun
authors.forename: L
authors.initials: L
authors.lastname: Memis
authors.forename: Tom H M
authors.initials: TH
authors.lastname: Ottenhoff
authors.forename: Fugen
authors.initials: F
authors.lastname: Ersoy
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D018123:Receptors, Interleukin / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D053707:Receptors, Interleukin-12; D012480:Salmonella Infections / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C508438:IL12RB1 protein, human; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12