FOXN1 mutation abrogates prenatal T-cell development in humans

For the first time it has been identified in humans that a genetic alteration of the protein FOXN1 during the prenatal life blocks the development of immune system, and in particular of white blood cells, called lymphocytes, responsible for defense against infections and tumor surveillance.

The disease caused by this alteration, called Nude/SCID, is the first severe immunodeficiency related to abnormalities of a protein not expressed in blood cells but in the thymus, the organ which educates the lymphocytes to recognize foreign molecules, called “non-self antigens”.

This discovery opens an important window for future therapies in some genetic immunodeficiencies. (By Claudio Pignata, MD, )

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