Professor Cindy Ma

Professor Cindy Ma heads the Human Immune Disorders Lab at the Garvan Institute of Medical Research. She is a member of Garvan Faculty, holds a conjoint appointment with UNSW Sydney (School of Clinical Medicine, Faculty of Medicine and Health) and an NHMRC Investigator grant Fellow (L1).

Her research interests lie in the study of human diseases of the immune system such as primary immunodeficiencies due to inborn errors of immunity (IEI), atopic/allergic disease and autoimmunity. These research interests stemmed from her PhD (University of Sydney), which investigated the humoral defects in the rare primary immunodeficiency, X-linked lymphoproliferative syndrome (XLP). The defects in generating antigen specific antibodies in XLP patients was found to be due to the inability of CD4+T cells to provide appropriate ‘help’ to XLP B cells. As such XLP B cells were intrinsically normal but did not receive the correct signals from CD4+ T cells to differentiate into an antibody-secreting cell.

Professor Ma’s work at Garvan continues to investigate defects in the development and function of immune cells in patients with iIEI resulting from disease-causing monogenic germline mutations. The aim is to determine how these genetic variants result in disease susceptibility and provide a molecular explanation for the clinical phenotype displayed by these individuals such as infectious susceptibility, defective humoral and cellular immunity, autoimmunity, and atopic disease. In addition to this, the study of IEI have provided insights on the requirements for a functioning immune system. Some of these inborn errors of immunity include the Hyper IgE syndromes, DOCK8 deficiency, Hyper IgM syndrome, Mendalian Susceptibility to Mycobacterial Disease, Common Variable Immunodeficiency, and X-linked agammaglobulinemia.

Another area of research her laboratory is perusing is the pathways that cause severe allergies and atopic disease such as atopic dermatitis and food anaphylaxis. The goal is to provide advances for the development of novel treatments for these common and debilitating conditions.