Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with distinctive genome-wide DNA hypomethylation.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac291
Abstract: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is in most cases-caused by mutations in either DNMT3B, ZBTB24, CDCA7, or HELLS. However, the causative genes of a few ICF patients remain unknown. We, herein, identified… read more here.
Keywords: icf syndrome; methylation; centromeric instability; immunodeficiency centromeric ... See more keywords
Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome
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DOI: 10.3389/fimmu.2017.00773
Abstract: Immunodeficiency, centromeric instability, and facial anomaly (ICF) syndrome is a rare autosomal recessive genetic condition with severe immunodeficiency, which leads to lethal infections if not recognized and treated in early childhood. Up-to-date treatment regimens consist… read more here.
Keywords: immunodeficiency; facial anomaly; immunodeficiency centromeric; centromeric instability ... See more keywords