title: IL-12 receptor 1β deficiency with features of autoimmunity and photosensitivity.
abstract: Primary immunodeficiences are often accompanied by autoimmune phenomena. IL-12 receptor deficiency is a well characterized primary immunodeficiency that leads to propensity to intracellular infections mainly with mycobacteria and Salmonella. We report on two patients with IL-12 receptor β1 deficiency that presented with autoimmune manifestations and photosensitivity dermatitis and describe possible pathogenetic mechanisms leading to development of clinically significant autoimmune phenomena.
authors.affiliation: a Department of Pediatrics D and Pediatric Gastroenterology Unit .
authors.forename: Galina
authors.initials: G
authors.lastname: Ling
authors.affiliation: b Department of Pediatrics B and Pediatric Rheumatology Unit , and.
authors.forename: Eduard
authors.initials: E
authors.lastname: Ling
authors.affiliation: c Pediatric Immunology Unit, Saban Pediatric Medical Center, Soroka University Medical Center , Beer Sheva , Israel .
authors.forename: Arnon
authors.initials: A
authors.lastname: Broides
authors.affiliation: d Department of Pediatrics B and Allergy and Immunology Clinic , Schneider's Medical Center for Israel , Petach Tikva , Israel .
authors.forename: Hagit
authors.initials: H
authors.lastname: Poran Feldman
authors.affiliation: c Pediatric Immunology Unit, Saban Pediatric Medical Center, Soroka University Medical Center , Beer Sheva , Israel .
authors.forename: Jacov
authors.initials: J
authors.lastname: Levy
authors.affiliation: d Department of Pediatrics B and Allergy and Immunology Clinic , Schneider's Medical Center for Israel , Petach Tikva , Israel .|e Sackler Faculty of Medicine, Tel Aviv University , Tel Aviv , Israel , and.
authors.forename: Ben-Zion
authors.initials: BZ
authors.lastname: Garty
authors.affiliation: c Pediatric Immunology Unit, Saban Pediatric Medical Center, Soroka University Medical Center , Beer Sheva , Israel .|f Department of Pediatrics A , Saban Pediatric Medical Center, Soroka University Medical Center , Beer Sheva , Israel.
authors.forename: Amit
authors.initials: A
authors.lastname: Nahum
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis / Q000235:genetics*; D015551:Autoimmunity / Q000235:genetics*; D001706:Biopsy; D002648:Child; D006801:Humans; D053711:Interleukin-12 Receptor beta 1 Subunit / Q000172:deficiency*; D008168:Lung / Q000473:pathology; D008297:Male; D010787:Photosensitivity Disorders / Q000175:diagnosis / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: D053711:Interleukin-12 Receptor beta 1 Subunit
keywords: Interleukin-12 receptor deficiency; SLE; immunoregulation; photosensitivity