سامانه مدیریت نشریات علمی دانشگاه علوم پزشکی مشهد

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

Journal of Pediatric Perspectives
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
  1. Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani G, Romano C. Concurrent instability at specific sites of chromosomes 1, 9 and 16 resulting in multi‐branched structures. Clinical Genetics. 1978; 14(5):313-4.
  2. Kamae C, Imai K, Kato T, Okano T, Honma K, Nakagawa N, Yeh TW, Noguchi E, Ohara A, Shigemura T, Takahashi H, Takakura S, Hayashi M, Honma A, Watanabe S, Shigemori T, Ohara O, Sasaki H, Kubota T, Morio T, Kanegane H, Nonoyama S. Clinical and immunological characterization of ICF syndrome in Japan. Journal of clinical immunology. 2018; 38(8):927-37.
  3. Simo-Riudalbas L, Diaz-Lagares A, Gatto S, Gagliardi M, Crujeiras AB, Matarazzo M, Esteller M, Sandoval J. Genome-wide DNA methylation analysis identifies novel hypomethylated non-pericentromeric genes with potential clinical implications in ICF syndrome. PLoS One. 2015; 10(7):e0132517.
  4. Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani G, Romano C. Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency. Human genetics. 1979; 51(2):127-37.
  5. Sullivan KE, Stiehm ER. Stiehm's immune deficiencies: Academic Press; 2014.
  6. Mehawej C, Khalife H, Hanna-Wakim R, Dbaibo G, Farra C. DNMT3B deficiency presenting as severe combined immune deficiency: A case report. Clinical Immunology. 2020; 215:108453.
  7. Ochs HD, Smith CE, Puck JM. Primary immunodeficiency diseases: a molecular & cellular approach: Oxford University Press; 2006.
  8. Sterlin D, Velasco G, Moshous D, Touzot F, Mahlaoui N, Fischer A, Suarez F, Francastel C, Picard C. Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey. Journal of clinical immunology. 2016; 36(2):149-59.
  9. Ahanchian H, Moazzen N, Sezavar M, Khalighi N, Khoshkhui M, Aelami MH, Motevalli Haghi NS, Rezaei N. COVID‐19 in a child with primary antibody deficiency. Clinical Case Reports. 2021; 9(2):755-8.
  10. Moazzen N, Ahanchian H, Sarabi M, Malek A, Abbasi Shaye Z. Bone and joint manifestations of primary immunodeficiency patients: review article. TEHRAN UNIVERSITY MEDICAL JOURNAL (TUMJ). 2021; 79(2 #ng0067):-.
  11. Hansen RS. X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis. Human molecular genetics. 2003; 12(19):2559-67.
  12. Sathasivam S, Selvakumaran A, Jones QC, Wathen CG. Immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome diagnosed in an adult who is now a long-term survivor. Case Reports. 2013; 2013:bcr2013200170.
  13. Dietzel-Dahmen J, Wieczorek D, Borkhardt A, Meisel R, Kuhlen M. Hematopoietic stem cell transplantation in an infant with immunodeficiency, centromeric instability, and facial anomaly syndrome. Frontiers in immunology. 2017; 8:773.
 

آمار
تعداد مشاهده مقاله: 351
تعداد دریافت فایل اصل مقاله: 320