GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLECENTER EXPERIENCE

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dc.contributor.authorAygün, Deniz
dc.contributor.authorKıykım, Ayça
dc.contributor.authorAyaz, Akif
dc.contributor.authorNepesov, Serdar
dc.contributor.authorFırtına, Sinem
dc.contributor.authorIşıkgil, Begüm
dc.contributor.authorÇamcıoğlu, Yıldız
dc.date.accessioned2024-05-19T14:23:37Z
dc.date.available2024-05-19T14:23:37Z
dc.date.issued2022
dc.departmentİstinye Üniversitesien_US
dc.description.abstractObjective: Mendelian susceptibility to mycobacterial disease (MSMD) is a subgroup of primary immunodeficiencies which develops with the Bacille Calmette–Guérin (BCG) vaccine or non-tuberculous mycobacterial infections. The clinical symptoms have a broad spectrum, from localized to disseminated infections. Materials and Methods: Herein, we performed whole-exome sequencing (WES) on 13 patients with MSMD phenotype. All variants were confirmed by Sanger sequencing. The mean age was 8.41 years (min 3 – max 14 years), and the mean age of symptom onset was 4.6 years in our cohort. Results: We found previously identified IFNGR1 (n=1), IFNGR2 (n=1), TYK2 (n=1), IL12RB1 (n=1), and CYBB (n=1) gene variants in nine patients. Our patients mostly suffered from lymphadenitis (61.5%), osteomyelitis (38%), and miliary tuberculosis (31%). All patients except one had had the BCG vaccination. Two patients developed BCGitis after vaccination. Three patients suffered from disseminated BCG infection (BCGosis). Conclusion: Our findings show the importance of molecular diagnosis in patients with severe infections as an approach for understanding the genetic basis of infectious diseases and deciding on treatment options. The deficiency of IFN-mediated immunity genes plays a crucial role in the pathogenesis of MSMD and must be considered in pediatric patients with BCGitis.en_US
dc.identifier.doi10.26650/JARHS2022-1119899
dc.identifier.endpage146en_US
dc.identifier.issn2651-4060
dc.identifier.issue3en_US
dc.identifier.startpage140en_US
dc.identifier.trdizinid1172509en_US
dc.identifier.urihttps://doi.org/10.26650/JARHS2022-1119899
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/1172509
dc.identifier.urihttps://hdl.handle.net/20.500.12713/4060
dc.identifier.volume5en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofSabiaden_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz20240519_kaen_US
dc.titleGENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLECENTER EXPERIENCEen_US
dc.typeArticleen_US

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