این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
International Journal of Pediatrics، جلد ۱۰، شماره ۵، صفحات ۱۵۹۹۸-۱۶۰۰۴
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Presentation of DNA Methyltransferase 3 Beta Mutation with Immune Deficiency and Dilation of Aorta and Esophagus
چکیده انگلیسی مقاله Background: Immunodeficiency, Centromeric region instability, and Facial anomalies syndrome (ICF) is a rare autosomal recessive disorder with Centromeric instability as a hallmark.Method: In this case report, we describe an Iranian 6-year-old male who was diagnosed with ICF syndrome. He had a history of recurrent infections, hydrocephalus report in pregnancy, failure to thrive, facial anomalies, global developmental delay, and umbilical hernia.Results: The investigation showed esophageal dilatation in barium swallow, ascending aortic dilatation in echocardiography and cutis laxa in skin biopsy. In laboratory data, impaired antibody function was observed. Finally, to find the probable causative genetic variant, a whole exome sequencing was performed. The data analysis using bioinformatics tools revealed c.1592G>A mutation in the exon 15 of DNMT3B. With respect to the diagnosis of ICF syndrome, our patient was treated with intravenous immunoglobulin (IVIG).Conclusion: It is necessary to perform periodic neurologic and ophthalmologic examinations. Echocardiography must be done annually. In addition, the possibility of HSCT should be evaluated
کلیدواژه‌های انگلیسی مقاله ICF Syndrome, Immune deficiency, DNMT3B mutation
نویسندگان مقاله | Mohammad Ali Kiani
Clinical Research Development Unit of Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran


| Ehsan Ghayoor Karimiani
Molecular and Clinical Sciences Institute, St. George’s, University of London, Cranmer Terrace, London SW17 0RE, UK


| Hamidreza Kianifar
Clinical Research Development Unit of Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran


| Seyed Ali Jafari
Clinical Research Development Unit of Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran


| Maryam Behmadi
Innovative medical research center, Mashhad branch, Islamic Azad University, Mashhad, Iran.


| Nasrin Moazzen
Clinical Research Development Unit of Akbar hospital, Mashhad university of medical sciences, Mashhad, Iran


| Hamid Ahanchian
Clinical Research Development Unit of Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
نشانی اینترنتی https://ijp.mums.ac.ir/article_19518.html
فایل مقاله فایلی برای مقاله ذخیره نشده است
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده case report
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات