ICF syndrome

ICF syndrome (ICF is an English acronym I mmunodeficiency, C entromeric area instability, F acial anomalies is in French combined immuno-deficiency (I), instability of the paracentromeric hétérochromatine (C) and dysmorphie facial (F)) being characterized by a immunodéficience and rearrangements characteristic in the vicinity of the Centromère S of chromosomes 1 and 16, and sometimes 9.

The other signs of this pathology probably under evaluated include/understand a facial dysmorphie (a bad provision of the components of the face), a hypotrophie with the birth (the new born one presents a small weight compared to the whole of the newborns), of the disorders of the growth and a psychomotor delay (difficulty of the training of the movements and sound maintains postural). The serum rate of the Immunoglobulin S IgG, IgM, IgE, and/or IgA are low although the immunoglobulins reached are variable. The recurring Infection S are very frequent and begin dice young childhood.

This disease is related to a limited Hypométhylation DNA and is often caused by changes of the one of genes coding a DNA méthyltransférase of which most frequent is DNMT3B.

A Prenatal diagnosis is possible. However because of the great variability of the changes met, an affected relative with the first degree by this pathology should have both Allèle S known (i.e. the changes of the two parents are known) to allow the diagnosis.

The treatment consists of regular injections Intraveineuse S of immunoglobulins.

Sources

Melanie Ehrlich, Kelly Jackson, Corry Weemaes Immunodeficiency, centromeric area instability, facial anomalies syndrome in Orphanet Newspaper off Rare Diseases 2006,1:2 DOI: 10.1186/1750-1172-1-2

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