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Immunodeficiency syndrome, variable MeSH Supplementary Concept Data 2022


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
41
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 Preferred
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