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Clinical, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review

[ Vol. 21 , Issue. 4 ]

Author(s):

Fatemeh Kiaee, Majid Zaki-Dizaji, Nasim Hafezi, Amir Almasi-Hashiani, Haleh Hamedifar, Araz Sabzevari*, Afshin Shirkani, Zeineb Zian, Farhad Jadidi-Niaragh, Fatemeh Aghamahdi, Mahdi Goudarzvand, Reza Yazdani, Hassan Abolhassani, Asghar Aghamohammadi and Gholamreza Azizi*   Pages 664 - 672 ( 9 )

Abstract:


Background: Immunodeficiency, centromeric instability and facial dysmorphism (ICF) syndrome is a rare autosomal recessive immune disorder presenting with hypogammaglobulinemia, developmental delay, and facial anomalies. The ICF type 1, type 2, type 3 and type 4 are characterized by mutations in DNMT3B, ZBTB24, CDCA7 or HELLS gene, respectively. This study aimed to present a comprehensive description of the clinical, immunologic and genetic features of patients with ICF syndrome.

Methods: PubMed, Web of Science, and Scopus were searched systemically to find eligible studies.

Results: Forty-eight studies with 118 ICF patients who met the inclusion criteria were included in our study. Among these patients, 60% reported with ICF-1, 30% with ICF-2, 4% with ICF-3, and 6% with ICF-4. The four most common symptoms reported in patients with ICF syndrome were: delay in motor development, low birth weight, chronic infections, and diarrhea. Intellectual disability and preterm birth among patients with ICF-2 and failure to thrive, sepsis and fungal infections among patients with ICF-1 were also more frequent. Moreover, the median levels of all three immunoglobulins (IgA, IgG, IgM) were markedly reduced within four types of ICF syndrome.

Conclusion: The frequency of diagnosed patients with ICF syndrome has increased. Early diagnosis of ICF is important since immunoglobulin supplementation or allogeneic stem cell transplantation can improve the disease-free survival rate.

Keywords:

Immunodeficiency, centromeric instability, facial dysmorphism syndrome, ICF syndrome, primary immunodeficiency, DNMT3B, ZBTB24, CDCA7, HELLS.

Affiliation:

Student Research Committee, Department of Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Legal Medicine Research Center, Legal Medicine Organization, Tehran, Department of Immunology, School of Medicine, Mazandaran University of Medical Sciences, Sari, Department of Epidemiology, School of Health, Arak University of Medical Sciences, Arak, CinnaGen Medical Biotechnology Research Center, Alborz University of medical sciences, Karaj, CinnaGen Medical Biotechnology Research Center, Alborz University of medical sciences, Karaj, Allergy and clinical Immunology Department, School of Medicine, Bushehr University of Medical Science, Bushehr, Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, Abdelmalek Essaadi University, Tetouan, Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Department of Physiology and Pharmacology, Faculty of Medicine, Alborz University of Medical Sciences, Karaj, Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj

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