Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Clinical, Immunologic and Molecular Spectrum of Patients With Immunodeficiency, Centromeric Instability, and Facial Anomalies (Icf) Syndrome: A Systematic Review Publisher Pubmed



Kiaee F1 ; Zakidizaji M2 ; Hafezi N3 ; Almasihashiani A4 ; Hamedifar H5, 6 ; Sabzevari A5, 7 ; Shirkani A8 ; Zian Z9 ; Jadidiniaragh F10 ; Aghamahdi F11 ; Goudarzvand M12 ; Yazdani R13 ; Abolhassani H14 ; Aghamohammadi A13 Show All Authors
Authors
  1. Kiaee F1
  2. Zakidizaji M2
  3. Hafezi N3
  4. Almasihashiani A4
  5. Hamedifar H5, 6
  6. Sabzevari A5, 7
  7. Shirkani A8
  8. Zian Z9
  9. Jadidiniaragh F10
  10. Aghamahdi F11
  11. Goudarzvand M12
  12. Yazdani R13
  13. Abolhassani H14
  14. Aghamohammadi A13
  15. Azizi G11
Show Affiliations
Authors Affiliations
  1. 1. Student Research Committee, Department of Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. 2. Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran
  3. 3. Department of Immunology, School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran
  4. 4. Department of Epidemiology, School of Health, Arak University of Medical Sciences, Arak, Iran
  5. 5. CinnaGen Medical Biotechnology Research Center, Alborz University of medical sciences, Karaj, Iran
  6. 6. CinnaGen Research and production Co., Alborz, Iran
  7. 7. Orchid pharmed Company, Tehran, Iran
  8. 8. Allergy and clinical Immunology Department, School of Medicine, Bushehr University of Medical Science, Bushehr, Iran
  9. 9. Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, Abdelmalek Essaadi University, Tetouan, Morocco
  10. 10. Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
  11. 11. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
  12. 12. Department of Physiology and Pharmacology, Faculty of Medicine, Alborz University of Medical Sciences, Karaj, Iran
  13. 13. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  14. 14. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden

Source: Endocrine# Metabolic and Immune Disorders - Drug Targets Published:2021


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. © 2021 Bentham Science Publishers.
Related Docs
View other Related Docs
1. T Cell Repertoire Abnormality in Immunodeficiency Patients With Dna Repair and Methylation Defects, Journal of Clinical Immunology (2022)
2. Dna Methylation in Human Diseases, Heliyon (2024)
3. Pulmonary Manifestations of Other Well-Defined Immunodeficiencies, Pulmonary Manifestations of Primary Immunodeficiency Diseases (2018)
4. Known and Potential Molecules Associated With Altered B Cell Development Leading to Predominantly Antibody Deficiencies, Pediatric Allergy and Immunology (2021)
5. Different Brands of Intravenous Immunoglobulin for Primary Immunodeficiencies: How to Choose the Best Option for the Patient?, Expert Review of Clinical Immunology (2015)
6. Primary Immunodeficiencies Associated With Ebv-Induced Lymphoproliferative Disorders, Critical Reviews in Oncology/Hematology (2016)
7. Clinical Phenotype Classification for Selective Immunoglobulin a Deficiency, Expert Review of Clinical Immunology (2015)
8. The Use of Immunoglobulin Therapy in Primary Immunodeficiency Diseases, Endocrine# Metabolic and Immune Disorders - Drug Targets (2016)
Experts (# of related papers)
Nima Rezaei (5)
Seyed Hamidollah Ghaffari (1)
Other Related Docs
9. Important Differences in the Diagnostic Spectrum of Primary Immunodeficiency in Adults Versus Children, Expert Review of Clinical Immunology (2015)