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 H^{5, 6} ; Sabzevari A^{5, 7} ; Shirkani A⁸ ; Zian Z⁹ ; Jadidiniaragh F¹⁰ ; Aghamahdi F¹¹ ; Goudarzvand M¹² ; Yazdani R¹³ ; Abolhassani H¹⁴ ; Aghamohammadi A¹³ Show All Authors
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.