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Gene: ZBTB24

Green List (high evidence)

OMIM: "Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011)."

PMID: 23486536 "Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a primary immunodeficiency, predominantly characterized by agammaglobulinemia or hypoimmunoglobulinemia, centromere instability and facial anomalies." The condition is caused by 2 genes DNMT3B (ICF1) and ZBTB24 (ICF2). "ICF2 patients have a significantly higher incidence of intellectual disability, and congenital malformations can be observed in some ICF1 and ICF2 cases... Immunodeficiency is severe in ICF syndrome and most patients die at young age, usually in the first or second decade."

Created: 13 Dec 2024, 4:42 a.m. | Last Modified: 13 Dec 2024, 4:42 a.m.

Panel Version: 1.799

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069; MONDO:0013553

Publications

• 23486536