MeSH Browser

MeSH Supplementary: Immunodeficiency syndrome, variable
Unique ID: C537362
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537362
Entry Term(s): Centromeric instability, immunodeficiency syndrome; ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome
Registry Number: 0
Previous Indexing: IMMUNOLOGIC DEFICIENCY SYNDROMES (2014-2019)
Heading Mapped to: *Primary Immunodeficiency Diseases; Face / *abnormalities
Frequency: 42
Note: A rare autosomal recessive disorder characterized by facial abnormalities, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after PHYTOHEMAGGLUTININ stimulation of LYMPHOCYTES. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients that is explained by mutations in the DNMT3B gene in some, but not all,cases. OMIM: 242860
Date of Entry: 2010/08/25
Revision Date: 2019/06/17

Immunodeficiency syndrome, variable MeSH Supplementary Concept Data 2024