NIH Rare Diseases
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2268Disease definitionThe 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 9.EpidemiologyICF has been described in about 50 patients worldwide.Clinical descriptionOther 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.EtiologyICF 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.Antenatal diagnosisWith 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 treatmentTreatment almost always includes regular infusions of immunoglobulins, mostly intravenously. Recently, bone marrow transplantation has been tried.Visit the Orphanet disease page for more resources.
MalaCards based summary
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Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, also known as
icf syndrome, is related to
immunodeficiency-centromeric instability-facial anomalies syndrome 2 and
immunodeficiency-centromeric instability-facial anomalies syndrome 4, and has symptoms including
diarrhea An important gene associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome is
DNMT3B (DNA Methyltransferase 3 Beta), and among its related pathways/superpathways are
One carbon pool by folate and
Sulfur amino acid metabolism. Affiliated tissues include
bone marrow,
b cells and
bone, and related phenotypes are
macroglossia and
macrocephaly
CDC
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After ten years of international revision efforts coordinated by the World Health Organization (WHO), the World Health Assembly on May 22, 2001, approved the International Classification of Functioning, Disability and Health and its abbreviation of "ICF." This classification was first created in 1980 (and then called the International Classification of Impairments, Disabilities, and Handicaps, or ICIDH) by WHO to provide a unifying framework for classifying the consequences of disease.
Disease Ontology
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An autosomal recessive disease characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases.
Wikipedia
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ICF syndrome (or Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare...
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