ICF syndrome (or Immunodeficiency, centromere instability and facial anomalies syndrome) is a very rare autosomal recessive immune disorder. The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links them The Diseases Database is a free Website that provides information about the relationships between medical conditions Symptoms, and Medications. An immune disorder is a dysfunction of the Immune system. These disorders can be characterized in several different ways By the component(s of the immune system

Genetics

ICF syndrome has an autosomal recessive pattern of inheritance.

ICF syndrome can be caused by a mutation in the DNA-methyltransferase-3b (Dnmt3b) gene. In biology mutations are changes to the Nucleotide sequence of the Genetic material of an organism DNA (cytosine-5--methyltransferase 3 beta, also known as DNMT3B, is a protein associated with Immunodeficiency centromere instability and facial anomalies syndrome History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance ^[1]

Presentation

It is characterized by variable reductions in serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before adulthood. Blood plasma is the Liquid component of Blood, in which the Blood cells are suspended Antibodies (also known as immunoglobulins, abbreviated Ig) are Gamma globulin Proteins that are found in Blood or other Bodily An infectious disease is a clinically evident Disease resulting from the presence of Pathogenic microbial agents including Pathogenic viruses Pathogenic For the 2008 British film by Noel Clarke see Adulthood (film. ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia. Hypertelorism is an abnormally increased distance between two organs or bodily parts usually referring to an increased distance between the Eyes (orbital hypertelorism seen Macroglossia is the medical term for unusual enlargement ( hypertrophy) of the Tongue.

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