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ICF syndrome ▪ Sale

ICF syndrome
Classification and external resources
OMIM	242860
DiseasesDB	32366

ICF syndrome (or Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder.

Characteristics [edit]

It is characterized by variable reductions in serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before adulthood. ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia.

Genetics [edit]

ICF syndrome can be caused by a mutation in the DNA-methyltransferase-3b (Dnmt3b) gene, located on chromosome 20q11.2. The disease is inherited in an autosomal recessive manner.

See also [edit]

• Bare lymphocyte syndrome
• List of cutaneous conditions

References [edit]

External links [edit]

• Orphanet Journal of Rare Diseases link to ICF syndrome [1]

v t e Immune disorders: Lymphoid and complement immunodeficiency (D80–D85, 279.0–4) Primary Antibody/humoral (B) Hypogammaglobulinemia X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome (2 3 4 5) Wiskott-Aldrich syndrome Hyper-IgE syndrome Other Common variable immunodeficiency ICF syndrome T cell deficiency (T) thymic hypoplasia: hypoparathyroid (Di George's syndrome) euparathyroid (Nezelof syndrome Ataxia telangiectasia) peripheral: Purine nucleoside phosphorylase deficiency Hyper IgM syndrome (1) Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency Omenn syndrome ZAP70 deficiency Bare lymphocyte syndrome Acquired AIDS Leukopenia: Lymphocytopenia Idiopathic CD4+ lymphocytopenia Complement deficiency C1-inhibitor (Angioedema/Hereditary angioedema) Complement 2 deficiency/Complement 4 deficiency MBL deficiency Properdin deficiency Complement 3 deficiency Terminal complement pathway deficiency Paroxysmal nocturnal hemoglobinuria Complement receptor deficiency M: LMC cell/phys/auag/auab/comp, igrc imdf/ipig/hyps/tumr proc, drug (L3/4)

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Information source: wikipedia.org

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