ArticleOxford medical case reports2025
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome identified by whole-exome sequencing (WES): a case report from a developing country.
Article in Oxford medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- ICF syndrome: An epigenetic paradigm for primary immunodeficiencies.Journal of human immunity · 2026Review
- Epigenetic disruption meets immune deficiency: a case report of ICF syndrome linked to DNMT3B mutation.Frontiers in immunology · 2025Article
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5 authors.
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Abstract
backgroundImmunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare genetic autosomal recessive disorder that results in impaired immune system function, instability of the centromeric region of chromosomes, and distinct facial features. This is the first case report of ICF in Palestine. CASE PRESENTATION: A male child with recurrent respiratory tract infections, ear discharge and facial anomalies. Whole-exome sequencing was performed. A homozygous missense variant DNMT3B was identified, and the patient was diagnosed with ICF and was managed successfully with intravenous immunoglobulins.
conclusionICF syndrome is a rare genetic disorder that affects the immune system. It has three common symptoms which are present in most cases. Treatments like immunoglobulin supplementation or allogeneic stem cell transplantation can improve the chances of survival and enhance the quality of life.
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