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Hyper-IgM Syndrome Dissected

 
  March, 5 2001 10:19
your information resource in human molecular genetics
 
     
Antibodies are critical for the clearance of invading microorganisms. A variety of antibodies with different functions exist and 'switch' from one type to another during infection. Individuals with hyper-IgM syndrome overproduce a certain type of antibody called IgM but do not produce other necessary types of antibodies. This leaves the patients highly susceptible to infections. A rare form of hyper-IgM syndrome is associated with ectodermal dysplasia, which is the absence of hair, teeth or sweat glands. The cause of this rare genetic disease has remained elusive.

In the March issue of Nature Immunology (Vol. 2, No. 3), scientists have discovered the mechanism that leads to the immune abnormalities seen in these patients. A mutation in a molecule called NEMO prevents the normal functioning of a transcription factor or regulatory molecule that normally controls a variety of genes including those involved in the 'switching' of antibodies Therefore, these patients fail to switch from IgM to other forms of antibodies critical in fighting certain bacterial infections. Further research is required to determine what other genes are affected by this mutation in NEMO.

Warren Strober
National Institutes of Health
NIAID
Building 10, Room 11N238
Bethesda, MD 20892-1890
Tel: +1 301 496-6810
Fax: +1 301 402-2240
Email: wstrober@atlas.niaid.nih.gov

(C) Nature Immunology press release.


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