Immune deficiencies are genetic defects  in which a specific part of the body’s immune system is  missing or defective. These defects are generally divided into those that are primary, due to a genetic cause, or secondary, defects which result from viral infections, some medications, malnutrition, or  toxins. As many as 1 in 500 people are born with a form of a primary immunodeficiency; in many cases these are not recognized because the immune system is able to compensate for some defects. More problematic immune defects are found in about 1 in 10,000 persons. Contrary to general understanding, primary immune defects are found in the sexes equally, and in adults at least as commonly as in children.

This laboratory and the clinical teams in Clinical Immunology at Mount Sinai that support this work, concentrate on the investigation and treatment of primary immune deficiencies.  While we do not in each case know the genetic defects that underlie the conditions studied, advances in genetic research are quickly moving the boundaries in these diseases with gene discovery approaches. Read More