Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene

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dc.contributor.authorGoktrurk, Bahar
dc.contributor.authorReisli, Ismail
dc.contributor.authorCaliskan, Umran
dc.contributor.authorOleaga-Quintas, Carmen
dc.contributor.authorDeswarte, Caroline
dc.contributor.authorTurul-Ozgur, Tuba
dc.contributor.authorBurgucu, Durmus
dc.date.accessioned2024-02-23T14:48:55Z
dc.date.available2024-02-23T14:48:55Z
dc.date.issued2016
dc.departmentNEÜen_US
dc.description.abstractClinical disease caused by weakly pathogenic mycobacterial species, which is known as Mendelian susceptibility to mycobacterial disease (MSMD), is a rare entity. IFN-gamma and IL-17 production are defective due to insufficient response to IL-2 and IL-23 in IL-12R beta 1 deficiency; so this also causes tendency to intracellular microorganisms and candidal diseases. Here, we present a patient who suffers IL-12R beta 1 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-gamma 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.en_US
dc.description.sponsorshipNational Institute of Allergy and Infectious Diseases grant [5R01AI089970]; National Center for Research Resources; National Center for Advancing Sciences of the National Institutes of Health grant [8UL1TR000043]; Rockefeller University; St. Giles Foundation; Institut National de la Sante et de la Recherche Medicale (INSERM); Paris Descartes University; Laboratoire d'Excellence Integrative Biology of Emerging Infectious Diseases [ANR-10-LABX-62-IBEID]; French National Research Agency.(ANR) under the Investments for the future [ANR-10-IAHU-01]en_US
dc.description.sponsorshipWe want to thank Yelena Nemirovskaya, and Lahouari Amar for their administrative support. This research was funded in part by the National Institute of Allergy and Infectious Diseases grant number 5R01AI089970, the National Center for Research Resources and the National Center for Advancing Sciences of the National Institutes of Health grant number 8UL1TR000043, The Rockefeller University, the St. Giles Foundation, Institut National de la Sante et de la Recherche Medicale (INSERM), Paris Descartes University, Laboratoire d'Excellence Integrative Biology of Emerging Infectious Diseases (ANR-10-LABX-62-IBEID) and the French National Research Agency.(ANR) under the Investments for the future (grant number ANR-10-IAHU-01).en_US
dc.identifier.endpage336en_US
dc.identifier.issn0041-4301
dc.identifier.issue3en_US
dc.identifier.pmid28266204en_US
dc.identifier.scopus2-s2.0-85012060100en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage331en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12452/17890
dc.identifier.volume58en_US
dc.identifier.wosWOS:000398204700019en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkish J Pediatricsen_US
dc.relation.ispartofTurkish Journal Of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAutoimmunityen_US
dc.subjectIl-12r Beta 1 Deficiencyen_US
dc.subjectMidline Defecten_US
dc.subjectSalmonellosisen_US
dc.titleInfectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 geneen_US
dc.typeArticleen_US

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