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IRCM researchers uncover a new function for an important player in the immune response
Date:3/27/2014

disease known as hyper-IgM syndrome type 2 (HIGM2) that is caused by mutations affecting AID," adds Dr. Zahn. "The disease is part of a family of genetic disorders in which patients only produce Immunoglobin M (the default class of antibody produced by B lymphocytes), but none of the other classes of antibodies elicited during infections. This dramatically compromises the immune system's ability to fight infectious diseases."

In the human genome, two copies (or alleles) of a gene exist for every protein, one coming from each parent. HIGM2 is usually caused by a total AID deficiency because both alleles of the gene are inactivated. However, in about 10 per cent of HIGM2 patients, only one allele of AID is mutated. This mutated enzyme is therefore dominant, as it causes the disease despite the simultaneous presence of normal AID in the B cell. The researchers found that all mutated AID variants were specifically lacking the domain identified in their study as being important for DNA repair.

"In HIGM2 patients, the absence of this region makes AID exceptionally efficient at producing DNA damage but without the ability to initiate the necessary repair mechanisms," concludes Dr. Di Noia. "As a result, the mutated AID interferes with the normal mechanism of class switching and becomes toxic for B cells, thus causing the immunodeficiency syndrome."


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Contact: Julie Langelier
julie.langelier@ircm.qc.ca
514-987-5555
Institut de recherches cliniques de Montreal
Source:Eurekalert

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