The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1)
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-019-00704-6
Abstract: To the Editor: Immunodeficiency, centromeric instability, facial anomalies syndrome (ICF) is a rare autosomal recessive disorder and is one of the few heritable human diseases caused by mutations in a DNA methyltransferase [1]. The majority… read more here.
Keywords: variants dnmt3b; immunodeficiency centromeric; centromeric instability; instability facial ... See more keywords
Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency–Centromeric Instability–Facial Anomalies Syndrome Type 1
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-021-00984-x
Abstract: To the Editor: Immunodeficiency, centromeric instability and facial anomalies syndrome (ICF) is a rare autosomal recessive condition (OMIM 242860) characterized by pericentromeric chromosome instability and a heterogeneous clinical presentation of recurrent infections, neurologic abnormalities, and… read more here.
Keywords: immunodeficiency; immunodeficiency centromeric; centromeric instability; instability facial ... See more keywords
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
Sign Up to like & getrecommendations! Published in 2017 at "Frontiers in Immunology"
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