Associate Professor Cindy Ma
Associate 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) 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, 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. Associate Professor Ma’s work at Garvan continues to investigate defects in the development and function of immune cells in patients with inborn errors of immunity 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. Some of these inborn errros 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 as well as autoimmune diseases such as scleroderma and Sjogren’s syndrome.
- 2007NHMRC Peter Doherty Research Fellowship
- 2011NHMRC Career Development Fellowship (CDF1)
- 2017NSW Government Ministry of Health Early-Mid Career Research Fellowship
- 2022NHMRC Investigator Grant (L1)
- 2023Current opinion in immunology10.1016/j.coi.2023.102298
T-helper-2 cells and atopic disease: lessons learnt from inborn errors of immunity.
- 2021Journal of clinical immunology10.1007/s10875-021-01152-x
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.
- 2021The Journal of clinical investigation10.1172/JCI142434
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.
- 2020Cytometry. Part A : the journal of the International Society for Analytical Cytology10.1002/cyto.a.24018
OMIP-063: 28-Color Flow Cytometry Panel for Broad Human Immunophenotyping.
- 2019JCI insight10.1172/jci.insight.127527
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.