title: Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.
abstract: Clinical disease caused by weakly pathogenic mycobacterial species, which is known as Mendelian susceptibility to mycobacterial disease (MSMD), is a rare entity. IFN-γ and IL-17 production are defective due to insufficient response to IL-2 and IL-23 in IL-12Rβ1 deficiency; so this also causes tendency to intracellular microorganisms and candidal diseases. Here, we present a patient who suffers IL-12Rβ1 deficiency caused by a novel bi-allelic mutation with recurrent salmonellosis, mycobacterial, fungal infections and remained asymptomatic during 13 months of follow-up after hIFN-γ treatment. In addition she had hemolytic anemia and midline defects like cleft lip and palate which have not been reported in a patient with MSMD in the literature prior to this case report. In conclusion, diagnosis of MSMD should be kept in mind in patients with recurrent salmonellosis, mycobacterial and fungal infections especially in countries with a high consanguinity rate.
authors.affiliation: Division of Pediatric Allergy and Immunology, Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey.
authors.forename: Bahar
authors.initials: B
authors.lastname: Göktürk
authors.affiliation: Division of Pediatric Allergy and Immunology, Department of Pediatrics, Necmettin Erbakan University Meram Faculty of Medicine, Konya, Turkey.
authors.forename: İsmail
authors.initials: İ
authors.lastname: Reisli
authors.affiliation: Division of Pediatric Hematology, Necmettin Erbakan University Meram Faculty of Medicine, Konya, Turkey.
authors.forename: Ümran
authors.initials: Ü
authors.lastname: Çalışkan
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, INSERM-U1163, Paris, France.
authors.forename: Carmen
authors.initials: C
authors.lastname: Oleaga-Quintas
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, INSERM-U1163, Paris, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Deswarte
authors.affiliation: Division of Pediatric Allergy and Immunology, Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey.
authors.forename: Tuba
authors.initials: T
authors.lastname: Turul-Özgür
authors.affiliation: Antalya Technopark Babylife Cord Blood Bank and Stem Cell Research Center, Antalya, Turkey.
authors.forename: Durmuş
authors.initials: D
authors.lastname: Burgucu
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, INSERM-U1163, Paris, France.
authors.forename: Melanie
authors.initials: M
authors.lastname: Migaud
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, INSERM-U1163, Paris, France.
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, INSERM-U1163, Paris, France.
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, INSERM-U1163, Paris, France.
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
mesh_terms: D000483:Alleles; D015551:Autoimmunity / Q000235:genetics*; D002675:Child, Preschool; D002972:Cleft Palate / Q000150:complications*; D003141:Communicable Diseases / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D053707:Receptors, Interleukin-12 / Q000172:deficiency / Q000235:genetics*; D013577:Syndrome
chemical_list: C508438:IL12RB1 protein, human; D053707:Receptors, Interleukin-12
keywords: IL-12Rβ1 deficiency; autoimmunity; midline defect; salmonellosis