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 SW۱۷ ۰RE, 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

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 ۶-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.۱۵۹۲G>A mutation in the exon ۱۵ of DNMT۳B. 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

ICF Syndrome, Immune deficiency, DNMT۳B mutation