title: Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.
authors.affiliation: Dr. Sami Ulus Children Health and Diseases Training and Research Center, Hosdere Caddesi 166/3, Yukari Ayranci, 06550 Ankara, Turkey. gonultanir58@yahoo.com
authors.forename: Gonul
authors.initials: G
authors.lastname: Tanir
authors.forename: Figen
authors.initials: F
authors.lastname: Dogu
authors.forename: Nilden
authors.initials: N
authors.lastname: Tuygun
authors.forename: Aydan
authors.initials: A
authors.lastname: Ikinciogullari
authors.forename: Caner
authors.initials: C
authors.lastname: Aytekin
authors.forename: Cumhur
authors.initials: C
authors.lastname: Aydemir
authors.forename: Mutlu
authors.initials: M
authors.lastname: Yuksek
authors.forename: Esin Cengiz
authors.initials: EC
authors.lastname: Boduroglu
authors.forename: Ludovic
authors.initials: L
authors.lastname: de Beaucoudrey
authors.forename: Claire
authors.initials: C
authors.lastname: Fieschi
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Feinberg
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Emel
authors.initials: E
authors.lastname: Babacan
mesh_terms: D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology; D007223:Infant; D053711:Interleukin-12 Receptor beta 1 Subunit / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D009154:Mutation; D009164:Mycobacterium Infections / Q000276:immunology; D053707:Receptors, Interleukin-12 / Q000172:deficiency* / Q000235:genetics*; D012480:Salmonella Infections / Q000276:immunology; D014388:Tuberculosis, Lymph Node / Q000276:immunology; D014421:Turkey
chemical_list: C508438:IL12RB1 protein, human; D053711:Interleukin-12 Receptor beta 1 Subunit; D053707:Receptors, Interleukin-12