This laboratory concentrates on the study of primary immune deficiency, conditions that arise due to genetic abnormalities of the immune system.  When the immune system is not working properly, the outcome may include  infections, especially of the respiratory or the gastrointestinal tract. However, because the immune system also controls inflammatory responses, some immune deficiencies  are complicated by autoimmune  disease and /or unregulated inflammatory conditions.  With the advance in genetic testing and accelerated methods of immune analysis, the number of known primary immune defects  has dramatically  increased every year and now number well over 200. The primary immune defects are classified every two years by a committee of the  International Union of Immunological Societies which results in a publication that outlines the pertinent clinical and laboratory  issues of each immune defect.* Understanding the basis of these immune defects have allowed physicians to better understand normal human immunity and to design more targeted treatments for these defects and also range of other medical conditions. Another major development in primary immune defects has been the development of new born screening for the most severe forms, those that prevent normal T cell development; these include severe combined immune deficiency (SCID) and other combined immune defects. New York State participated in this initiative starting in 2010;  Mount Sinai is the referral site for infants born in Manhattan, Brooklyn and Staten Island. A number of infants with SCID, DiGeorge syndrome and other T cell defects have been identified.

This laboratory concentrates on several of the most common of the primary immune defects, the conditions   that prevent normal B cell functions and thus impair antibody production. These occur in infants, children and in patients of any age. In some cases, B cell development is completely prevented, and in others, some B cells mature but are not able to become plasma cells, preventing immune globulin production. The outcomes include both infections, autoimmunity and some inflammatory conditions. Because of the clinical manifestations, wide range of age at onset of complications, delayed recognition of the immune defect, especially in adults, is a common occurrence.

This laboratory is investigating the genetics of B cell defects, the pathogenesis of autoimmune and inflammatory conditions, and working on treatment options.

* Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol. 2015 Oct 19.  PubMed PMID: 26482257;PubMed Central PMCID: PMC4659841.