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Kiani, Mohammad Ali, Ghayoor Karimiani, Ehsan, Kianifar, Hamidreza, Jafari, Seyed Ali, Behmadi, Maryam, Moazzen, Nasrin, Ahanchian, Hamid. (1401). Presentation of DNA Methyltransferase 3 Beta Mutation with Immune Deficiency and Dilation of Aorta and Esophagus. , 10(5), 15998-16004. doi: 10.22038/ijp.2022.62028.4762
Mohammad Ali Kiani; Ehsan Ghayoor Karimiani; Hamidreza Kianifar; Seyed Ali Jafari; Maryam Behmadi; Nasrin Moazzen; Hamid Ahanchian. "Presentation of DNA Methyltransferase 3 Beta Mutation with Immune Deficiency and Dilation of Aorta and Esophagus". , 10, 5, 1401, 15998-16004. doi: 10.22038/ijp.2022.62028.4762
Kiani, Mohammad Ali, Ghayoor Karimiani, Ehsan, Kianifar, Hamidreza, Jafari, Seyed Ali, Behmadi, Maryam, Moazzen, Nasrin, Ahanchian, Hamid. (1401). 'Presentation of DNA Methyltransferase 3 Beta Mutation with Immune Deficiency and Dilation of Aorta and Esophagus', , 10(5), pp. 15998-16004. doi: 10.22038/ijp.2022.62028.4762
Kiani, Mohammad Ali, Ghayoor Karimiani, Ehsan, Kianifar, Hamidreza, Jafari, Seyed Ali, Behmadi, Maryam, Moazzen, Nasrin, Ahanchian, Hamid. Presentation of DNA Methyltransferase 3 Beta Mutation with Immune Deficiency and Dilation of Aorta and Esophagus. , 1401; 10(5): 15998-16004. doi: 10.22038/ijp.2022.62028.4762

Presentation of DNA Methyltransferase 3 Beta Mutation with Immune Deficiency and Dilation of Aorta and Esophagus

International Journal of Pediatrics
دوره 10، شماره 5، مرداد 2022، صفحه 15998-16004    اصل مقاله (859.74 K)
نوع مقاله: case report
شناسه دیجیتال (DOI): 10.22038/ijp.2022.62028.4762
نویسندگان
Mohammad Ali Kiani1؛ Ehsan Ghayoor Karimiani2؛ Hamidreza Kianifar1؛ Seyed Ali Jafari1؛ Maryam Behmadi3؛ Nasrin Moazzen* 4؛ Hamid Ahanchian1
1Clinical Research Development Unit of Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
2Molecular and Clinical Sciences Institute, St. George’s, University of London, Cranmer Terrace, London SW17 0RE, UK
3Innovative medical research center, Mashhad branch, Islamic Azad University, Mashhad, Iran.
4Clinical Research Development Unit of Akbar hospital, Mashhad university of medical sciences, Mashhad, Iran
چکیده
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
کلیدواژه‌ها
ICF Syndrome؛ Immune deficiency؛ DNMT3B mutation
مراجع
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