Shirkani, A and Kiaee, F and Zaki-Dizaji, M and Hafezi, N and Almasi-Hashiani, A (2021) Clinical, immunologic and molecular spectrum of patients with immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome: A systematic review. Endocrine, Metabolic and Immune Disorders - Drug Targets, 21 (4). 664 -672. ISSN 18715303
Full text not available from this repository.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.
| Item Type: | Article |
|---|---|
| Subjects: | QU Biochemistry |
| Divisions: | Faculty of Medicin > Department of Immunology and Allergy |
| Depositing User: | خدیجه شبانکاره |
| Date Deposited: | 04 Sep 2021 06:47 |
| Last Modified: | 04 Sep 2021 06:47 |
| URI: | http://eprints.bpums.ac.ir/id/eprint/9410 |
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