This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)
Orphanet: ICF syndrome
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome ICF is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres the juxtacentromeric heterochromatin of chromosomes 1 and 16 and sometimes 9. Other variable symptoms of this probably under-diagnosed syndrome include mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation. Recurrent infections are the presenting symptom, usually in early childhood. Much of this DNA hypomethylation is in 1qh, 9qh, and 16qh, regions that are the site of whole-arm deletions, chromatid and chromosome breaks, stretching decondensation , and multiradial chromosome junctions in mitogen-stimulated lymphocytes. However, given the variety of DNMT3B mutations, a first-degree affected relative should first have both alleles of this gene sequenced. Treatment almost always includes regular infusions of immunoglobulins, mostly intravenously.
Immunodeficiency–centromeric instability–facial anomalies syndrome
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Alternative titles; symbols. Immunodeficiency, centromeric instability, and facial dysmorphism ICF syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin PHA stimulation of lymphocytes. Variable immune deficiency in association with centromeric instability of chromosomes 1, 9, 16, and, rarely, 2, with an increased frequency of somatic recombination of the arms of these chromosomes and a marked tendency to formation of multibranched configurations, has been reported by Hulten , Tiepolo et al. Three males and 2 females have been reported.