Scopus
🔓 Açık Erişim YÖKSİS ISSN Eşleşti
SJR Q2
Whole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis
Clinical Rheumatology · Nisan 2025
YÖKSİS Kayıtları — ISSN Eşleşmesi
The evaluation of carotid intima-media thickness in children with familial Mediterranean fever
2008 ISSN: 0770-3198 SCI-Expanded
Prof. Dr. FATİH KARA →
Henoch Schonlein purpura in childhood: clinical analysis of 254 cases over a 3-year period
2008 ISSN: 0770-3198 SCI-Expanded
Prof. Dr. FATİH KARA →
Comparison of the effects of two antidepressants on exercise performanceof the female patients with fibromyalgia
2006 ISSN: 0770-3198 SSCI 14 atıf
Prof. Dr. NİLSEL OKUDAN →
The evaluation of carotid intima media thickness in children with familial Mediterranean fever
2008 ISSN: 0770-3198 SCI-Expanded
Prof. Dr. HARUN PERU →
HLA class 1 associations in Henoch Schonlein purpura increased and decreased frequencies
2007 ISSN: 0770-3198 SCI-Expanded
Prof. Dr. HARUN PERU →
Henoch Schonlein purpura in childhood: clinical analysis of 254 cases over a 3-year period
2008 ISSN: 0770-3198 SCI-Expanded
Prof. Dr. HARUN PERU →
Axial Psoriatic Arthritis: The Impact of Underdiagnosed Disease on Outcomes in Real Life
2018 ISSN: 0770-3198 SCI-Expanded
Prof. Dr. SEMA YILMAZ →
Demographic and clinical characteristics of patients with serum sickness-like reaction
2018 ISSN: 0770-3198 SCI
Prof. Dr. AHMET SERT →
Demographic and clinical characteristics of patients with serum sickness-like reaction
2018 ISSN: 0770-3198 SCI
Prof. Dr. ALAADDİN YORULMAZ →
Left ventricular diastolic function evaluated with tissue Doppler imaging in children with familial Mediterranean fever
2009 ISSN: 0770-3198 SCI-Expanded
Prof. Dr. HARUN PERU →
Evaluation of hematological parameters in children with FMF
2019 ISSN: 0770-3198 SCI-Expanded
Prof. Dr. HARUN PERU →
Left ventricular diastolic function evaluated with tissue Doppler imaging in children with familial Mediterranean fever
2009 ISSN: 0770-3198 SCI-Expanded 10 atıf
Prof. Dr. YAVUZ KÖKSAL →
The clinical value of interleukins-8, -10, and -17 in idiopathic granulomatous mastitis
2020 ISSN: 0770-3198 SCI-Expanded
Prof. Dr. HÜSAMETTİN VATANSEV →
Clinical features and outcome of MIS-C patients: an experience from Central Anatolia
2021 ISSN: 0770-3198 SCI-Expanded Q3
Prof. Dr. RESUL YILMAZ →
Evaluation of serum interleukin-6 (IL-6), IL-13, and IL-17 levels and computed tomography finding in interstitial lung disease associated with connective tissue disease patients
2021 ISSN: 0770-3198 SCI-Expanded Q3
Doç. Dr. DİLEK ERGÜN →
Evaluation of Serum Interleukin-6 (IL-6), IL-13 and IL-17 Levels and Computed Tomography Finding in Interstitial Lung Disease Associated with Cönnective Tissue Disease Patients
2021 ISSN: 0770-3198 SCI-Expanded Q3
Prof. Dr. SEMA YILMAZ →
Evaluation of serum interleukin-6 (IL-6), IL-13, and IL-17 levels and computed tomography finding in interstitial lung disease associated with connective tissue disease patients
2021 ISSN: 0770-3198 SCI-Expanded Q3
Dr. Öğr. Üyesi MUSLU KAZIM KÖREZ →
Comparison of the effects of two antidepressants on exercise performance of the female patients with fibromyalgia
2005 ISSN: 0770-3198 SCI-Expanded
Prof. Dr. FUNDA LEVENDOĞLU →
’’Mortality in Psoriatic Arthritis Patients, Changes over Time, and the Impact of COVID‑19: Results from a Multicenter Psoriatic Arthritis Registry (PsART‑ID)
2023 ISSN: 0770-3198 SCI-Expanded
Prof. Dr. SEMA YILMAZ →
Evaluation of the international severity score for FMF (ISSF) scores in Turkish children diagnosed with FMF: a single-center experience
2021 ISSN: 0770-3198 SCI-Expanded Q3
Dr. Öğr. Üyesi FATİH MEHMET AKİF ÖZDEMİR →
Makale Bilgileri
Dergi
Clinical Rheumatology
ISSN07703198
Yayın TarihiNisan 2025
Cilt / Sayfa44 · 1843-1850
Scopus ID2-s2.0-85218677700
Erişim🔓 Açık Erişim
Özet
Backgrounds: To reveal rare genetic factors that cause susceptibility to idiopathic granulomatous mastitis (IGM). Methods: Whole exome sequencing (WES) was performed in 30 patients with histopathologically diagnosed idiopathic granulomatous mastitis. WES analysis mainly focused on 317 genes linked to autoimmunity, autoinflammation, and immune dysregulation. Results: A total of 141 variants were detected in 100 genes. The 40% (12/30) of patients had pathogenic or likely pathogenic variants. The pathogenic/likely pathogenic variants were 10.6% of all variants, and the rest of the variants (89.4%) were classified as VUS. Most of the variants were heterozygous (97.2%) only 4 variants (2.8%) were homozygous. Pathogenic/likely pathogenic variants were detected in FCGR1A, MPO, F5, IL36RN, CLUH, C9, NAXD, PROC, THRB, IFI30, COQ2, RNASEH2B, and SLC29A3 genes. The highest number of variants were detected in UNC13D, VPS13B, EPHB4, NLRP12, TCIRG1, TOM1, IRF9, and PIK3CG. Conclusion: Up to date, our study is the first whole exome sequencing study of IGM patients which aims to find out the rare variants related to etiopathogenesis of the disease. We identified 141 single nucleotide variants of 100 genes, and most of these variants were found in innate immunity-related genes. The current study provides clues for identifying the etiologic factors and designing further functional studies in this rare disease with unknown etiopathogenesis. (Table presented.)
Yazarlar (2)
1
Leyla Ozer
ORCID: 0000-0001-8763-5268
2
H. Koksal
Anahtar Kelimeler
Autoimmunity
Autoinflammation
Genetics
Granulomatous inflammation
Idiopathic granulomatous mastitis
Whole exome sequencing
Kurumlar
Mikrogen Genetic Diagnosis Center
Ankara Turkey
Selçuk Üniversitesi
Selçuklu Turkey
Scimago Dergi (ISSN Eşleşmesi)
Clinical Rheumatology
Q2
SJR Skoru0,855
H-Index104
YayıncıSpringer Science and Business Media Deutschland GmbH
ÜlkeUnited Kingdom
Medicine (miscellaneous) (Q2)
Rheumatology (Q2)
Metrikler
3
Atıf
2
Yazar
6
Anahtar Kelime