Mıs-C Hastalarının Hla Doku Tiplendirmesi ve Genetik Yatkınlıklarının Araştırılması

Abstract

Büyükcam,A.,Investigation of HLA Tissue Typing and Genetic Predisposition of MIS-C Patients, Hacettepe University Institute of Health Sciences Graduate School Education Master Thesis, Ankara, 2023. Multisystem Inflammatory Syndrome (MIS-C) is a hyperinflammatory clinical condition that affects multiple organ systems following SARS-CoV-2 infection and can cause multi organ failure and death. In MIS-C, not every child has this disease with the same severity. In this study, it was aimed to investigate the demographic and clinical characteristics and HLA alleles and genetic variants affecting the clinic in MIS-C patients. This research was conducted between 1 May 2020 and 1 May 2021 by Gaziantep T.C. who applied to the Ministry of Health Cengiz Gökçek Gynecology and Pediatrics Hospital. Forty pediatric patients (0-18 years old) who met the MIS-C case definition of the Ministry of Health were included. The median age of 40 pediatric patients diagnosed with MIS-C was 6.3 years (min-max: 3.6 months-16.9 years) and 60% (n=24) were male. The median duration of symptoms in the patients was 4 days (IQR 25-75%; 2-5 days). All of the patients had fever complaints in 100% (n=40). Apart from this, the main most common symptoms are; abdominal pain (62.5%, n=25), conjunctivitis (57.5%, n=23). 22.5% (n=9) of the patients were mild; 37.5% (n=15) were in the moderate and 40% (n=16) severe MIS-C group. The HLA tissue typing distribution of the patients was heterogeneous according to MIS-C clinical severity. ERAP2 (ENST00000379904.4:c.1368+3_1368+102dup) variant was detected in 27 (69%) patients in the homozygous recessive group and was classified as highly pathogenic. The IFN gamma concentration in MIS-C correlates with the severity of the disease, since the protein that ERAP2 also produces is associated with IFN gamma. Therefore, the ERAP2 variant in our study was thought to be a gene that may contribute to revealing the pathogenesis of MIS-C, but due to the limited number of cases, larger and functional studies are needed.