ICF syndrome
Other Names: Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency syndrome, variable; Centromeric instability, immunodeficiency syndrome; CIID; Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease 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.
Epidemiology[edit | edit source]
ICF has been described in about 50 patients worldwide.
Cause[edit | edit source]
ICF always involves limited hypomethylation of DNA and often arises from mutations in one of the DNA methyltransferase genes (DNMT3B). Much of this DNA hypomethylation is in the 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. By an unknown mechanism, the DNMT3B deficiency that causes ICF interferes with lymphogenesis (at a step after class switching) or lymphocyte activation.
Signs and symptoms Other variable symptoms of this probably under-diagnosed syndrome include mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation. Serum levels of IgG, IgM, IgE, and/or IgA are low, although the type of immunoglobulin deficiency is variable. Recurrent infections are the presenting symptom, usually in early childhood.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Abnormality of chromosome stability
- Decreased circulating antibody level
- Micrognathia(Little lower jaw)
- Recurrent respiratory infections(Frequent respiratory infections)
- Short stature(Decreased body height)
30%-79% of people have these symptoms
- Abnormality of neutrophils
- Anemia(Low number of red blood cells or hemoglobin)
- Cellular immunodeficiency
- Communicating hydrocephalus
- Depressed nasal bridge(Depressed bridge of nose)
- Global developmental delay
- Intellectual disability(Mental deficiency)
- Lymphopenia(Decreased blood lymphocyte number)
- Macrocephaly(Increased size of skull)
- Malabsorption(Intestinal malabsorption)
5%-29% of people have these symptoms
- Epicanthus(Eye folds)
- Flat face(Flat facial shape)
- Hypertelorism(Wide-set eyes)
- Low-set ears(Low set ears)
- Macroglossia(Abnormally large tongue)
- Protruding tongue(Prominent tongue)
- Umbilical hernia
Diagnosis[edit | edit source]
With the identification of DNMT3B as the affected gene in a majority of ICF patients, prenatal diagnosis of ICF is possible. However, given the variety of DNMT3B mutations, a first-degree affected relative should first have both alleles of this gene sequenced.
Management and treatment[edit | edit source]
Treatment almost always includes regular infusions of immunoglobulins, mostly intravenously. Recently, bone marrow transplantation has been tried.
This article is a genetic disorder stub. You can help WikiMD by expanding it!
NIH genetic and rare disease info[edit source]
ICF syndrome is a rare disease.
ICF syndrome Resources | |
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Contributors: Prab R. Tumpati, MD