Heterozygous Pathogenıc Masp2 Varıant Assocıated Wıth Infantıle Gıant Cell Hepatıtıs Wıth Autoımmune Haemolytıc Anaemıa In A Chıld

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dc.authoridMerve Sarıtaş / 0000-0003-4753-9372
dc.authoridSinem Fırtına / 0000-0002-3370-8545
dc.authoridSüheyla Ocak / 0000-0001-7479-7444
dc.authoridAyça Kıykım /0000-0001-5821-3963
dc.authoridZeynep Ocak / 0000-0001-9784-2228
dc.authoridBegüm Işıkgil / 0000-0002-7541-4596
dc.authoridMüge Sayitoğlu /0000-0002-8648-213X
dc.authorscopusidZeynep Ocak / 26637163700
dc.authorwosidZeynep Ocak / DJN-8048-2022
dc.contributor.authorSarıtaş, Merve
dc.contributor.authorFırtına, Sinem
dc.contributor.authorOcak, Süheyla
dc.contributor.authorKıykım, Ayça
dc.contributor.authorOcak, Zeynep
dc.contributor.authorIşıkgil, Begüm
dc.contributor.authorSayitoğlu, Müge
dc.date.accessioned2025-04-18T07:31:07Z
dc.date.available2025-04-18T07:31:07Z
dc.date.issued25 Ekim 2024
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
dc.description.abstractObjective: Infantile giant cell hepatitis with autoimmune hae molytic anaemia (GCH-AHA) is a rare disease characterised by giant cell and autoimmune haemolysis. The pathogenic mecha nisms involve several factors, including genetic and immunolog ical components, particularly those related to the lectin pathway of the complement system. In this study, we aimed to identify possible germline variations in patients with GCH-AHA. Material and Method: Whole-exome sequencing (WES) was performed on a 6-month-old boy who was diagnosed with GCH AHA. An in-house data analysis pipeline was applied to deter mine familial segregation using Sanger sequencing. ELISA was used for MASP2 protein detection. Result: WES revealed a likely pathogenic heterozygous missense variant (p.(Cys618Tyr)) in the Mannose-binding lectin (MBL)-associated serine protease-2 (MASP-2) gene. The MASP2 variant identified in the serine protease domain was predicted to disrupt disulphide bonds. In vitro assays showed decreased MASP2 levels in the patient and mother compared with controls, supporting the potential pathogenicity of the variant. Conclusion: This study highlighted the association between a novel MASP2 variant and GCH-AHA, emphasising the role of the lectin pathway in the pathogenesis of this rare disorder. The variable expressivity and incomplete penetrance observed in MASP2 deficiency underscore the complexity of genotype-phe notype correlations. Further investigations into the lectin path way's detailed activation and its impact on GCH-AHA pathogen esis are warranted for a comprehensive understanding of the disease mechanisms.
dc.identifier.citationSarıtaş, M., Fırtına, S., Ocak, S., Kıykım, A., vd. (2024). HETEROZYGOUS PATHOGENIC MASP2 VARIANT ASSOCIATED WITH INFANTILE GIANT CELL HEPATITIS WITH AUTOIMMUNE HAEMOLYTIC ANAEMIA IN A CHILD. Journal of Istanbul Faculty of Medicine, 87(4), 291-298. https://doi.org/10.26650/IUITFD.1489141
dc.identifier.endpage298
dc.identifier.issue4
dc.identifier.startpage291
dc.identifier.urihttps://doi.org/10.26650/IUITFD.1489141
dc.identifier.urihttps://dergipark.org.tr/tr/pub/iuitfd/issue/90326/1489141
dc.identifier.urihttps://hdl.handle.net/20.500.12713/6448
dc.identifier.volume87
dc.identifier.wosWOS:001343954000004
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.institutionauthorOcak, Zeynep
dc.institutionauthorIşıkgil, Begüm
dc.institutionauthoridZeynep Ocak / 0000-0001-9784-2228
dc.institutionauthoridBegüm Işıkgil / 0000-0002-7541-4596
dc.language.isoen
dc.publisherİstanbul Üniversitesi
dc.relation.ispartofİstanbul Tıp Fakültesi Dergisi
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectInfantile giant cell hepatitis
dc.subjectautoimmune haemolytic anaemia
dc.subjectcomplement system
dc.subjectMASP2
dc.subjectwhole-exome sequencing
dc.titleHeterozygous Pathogenıc Masp2 Varıant Assocıated Wıth Infantıle Gıant Cell Hepatıtıs Wıth Autoımmune Haemolytıc Anaemıa In A Chıld
dc.title.alternativeOtoimmün Hemolitik Anemili İnfantil Dev Hücreli Hepatitli Bir Çocukta Hastalıkla İlişkili Heterozigot Patojenik Masp2 Varyantı
dc.typeArticle

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