A/Prof Cindy Ma

A/Prof Cindy Ma

A/Prof Cindy Ma co-heads the Immunology and Immunodeficiency laboratory, in the Immunity and Inflammation theme at the Garvan Institute of Medical Research. She is a member of Garvan Faculty, holds a conjoint appointment with St Vincent’s Clinical School (UNSW Sydney) and is currently funded by the

Biography

A/Prof Cindy Ma co-heads the Immunology and Immunodeficiency laboratory, in the Immunity and Inflammation theme at the Garvan Institute of Medical Research. She is a member of Garvan Faculty, holds a conjoint appointment with St Vincent’s Clinical School (UNSW Sydney) and is currently funded by the NSW Government, Ministry of Health, through an Early-Mid Career Research Fellowship.

Her research interests lie in the study of human diseases of the immune system such as primary immunodeficiencies and atopic and autoimmune diseases. 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.

A/Prof Ma’s work at the Garvan Institute continues to investigate defects in the development and function of immune cells in patients with primary immunodeficiencies 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 primary immunodeficiencies 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 and atopic disease.

A/Prof Cindy Ma co-heads the Immunology and Immunodeficiency laboratory, in the Immunity and Inflammation theme at the Garvan Institute of Medical Research. She is a member of Garvan Faculty, holds a conjoint appointment with St Vincent’s Clinical School (UNSW Sydney) and is currently funded by the NSW Government, Ministry of Health, through an Early-Mid Career Research Fellowship.

Her research interests lie in the study of human diseases of the immune system such as primary immunodeficiencies and atopic and autoimmune diseases. 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.

A/Prof Ma’s work at the Garvan Institute continues to investigate defects in the development and function of immune cells in patients with primary immunodeficiencies 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 primary immunodeficiencies 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 and atopic disease.

Awards and Honours

2017 – NSW Government Ministry of Health Early-Mid Career Research Fellowship
2011 - NHMRC Career Development Fellowship (CDF1)
2007 - NHMRC Peter Doherty Research Fellowship
2002 - Australian Postgraduate Research Award (APA)

Education

2006 - PhD, Centenary Institute of Cancer Medicine and Cell Biology, Department of Experimental Medicine, University of Sydney - Australia
2001 - BSc (Honours – first class), University of Sydney - Australia

Selected Publications

B Pillay, M Fusaro, PE Gray, AL Statham, L Burnett, L Bezrodnik, A Kane, W Tong, C Abdo, S Winter, S Chevalier, R Levy, C Masson, Y Schmitt, C Bole, M Malphettes, E Macintyre, J De Villartay, JB Ziegler, JM Smart, J Peake, A Aghamohammadi, L Hammarström, H Abolhassani, C Picard, A Fischer, S Latour, B Neven, SG Tangye and CS Ma. (2021) Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency. Journal of Clinical Investigations. 131. 59-76

R Yang, F Mele, L Worley, D Langlais, J Rosain, I Benhsaien, H Elarabi, CA Croft, J Doisne, P Zhang, M Weisshaar, D Jarrossay, D Latorre, Y Shen, J Han, M Ogishi, C Gruber, J Markle, F Al Ali, M Rahman, Ta Khan, Y Seeleuthner, G Kerner, LT Husquin, JL Maclsaac, M Jeljeli, A Errami, F Ailal, MS Kobor, C Oleaga-Quintas, M Roynard, M Bourgey, J El Baghdadi, S Boisson-Dupuis, A Puel, F Batteux, F Rozenberg, N Marr, Q Pan-Hammarstrom D Bogunovic, L Quintana-Murci, T Carroll, CS Ma, L Abel, A Bousfiha, JP Di Santo, LH Glimcher, P Gros, SG Tangye, F Sallusto, J Bustamante, and JL Casanova. (2020) Human T-bet governs innate and innate-like adaptive IFNg immunity against Mycobacteria. Cell. 183: 1826-47.e31

S Ghosh, SK Bal, ESJ Edwards, B Pillay, RJ Heredia, FE Cipe, G Rao, E Salzer, S Zoghi, H Abolhassani, T Momen, E Gostick, DA Price, Y Zhang, AJ Oler, C Gonzaga-Jauregui, B Erman, A Metin, I Ilhan, S Haskologlu, C Islamoglu, K Baskin, S Ceylaner, E Yilmaz, E Unal, M Karakukcu, D Berghuis, T Cole, AK Gupta, F Hauck, AIM Hoepelman, S Baris, E Karakoc-Aydiner, A Ozen, L Kager, D Holzinger, M Paulussen, R Krüger, R Meisel, PT Oommen, E Morris, B Neven, A Worth, J van Montfrans, PLA Fraaij, S Choo, F Dogu, EG Davies, S Burns, G Dückers, RP Becker, H von Bernuth, S Latour, M Faraci, M Gattorno, HC Su, Q Pan-Hammarström, L Hammarström, MJ Lenardo, CS Ma, T Niehues, A Aghamohammadi, N Rezaei, A Ikinciogullari, SG Tangye, AC Lankester, and K Boztug. (2020) Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency. Blood. 136: 2638-55

JY Yap, B Gloss, M Batten, P Hsu, L Berglund, F Cai, P Dai, A Parker, M Qiu, W Miley, R Roshan, V Marshall, D Whitby, E Wegman, R Garsia, K Wu, E Kirk, M Polizzotto, EK Deenick, SG Tangye, CS Ma, CIRCA, and TG Phan. (2020) Everolimus-induced remission of classic Kaposi’s sarcoma secondary to cryptic splicing mediated CTLA4 haploinsufficiency. Journal of Clinical Immunology. 40: 774-9.

XF Kong, L Worley, D Rinchai, V Bondet, PV Jithesh, M Goulet, E Nonnotte, AS Rebillat, M Conte, C Mircher, N Gürtler, L Liu, M Migaud, M Elanbari, T Habib, CS Ma, J Bustamante, L Abel, A Ravel, S Lyonnet, A Munnich, D Duffy, D Chaussabel, JL Casanova, SG Tangye, S Boisson-Dupuis, and A Puel. (2020) Three copies of four interferon receptor genes underlie type I interferonopathies in Down syndrome. Journal of Clinical Immunology. 40: 807-19.

K Payne, W Li, R Salomon, and CS Ma. (2020) OMIP-063: 28-Color flow cytometry panel for broad human immunophenotyping. Cytometry A. cyto.a.24018-5

V Beziat, SJ Tavernier, Y Chen, CS Ma, M Materna, A Laurence, J Staal, D Aschenbrenner, L Roels, L Worley, K Claes, L Gartner, LA Kohn, M De Bruyne, K Schmitz-Abe, L Charbonnier, S Keles, J Nammour, N Vladikine, MRLM Renkilaraj, Y Seeleuthner, M Migaud, J Rosain, M Jeljeli, B Boisson, E Van Braeckel, JA Rosenfeld, H Dai, LC Burrage, DR Murdock, BN Lambrecht, V Avettand-Fenoel, TP Vogel, Undiagnosed Diseases Network, CR Esther Jr., S Haskologlu, F Dogu, P Ciznar, D Boutboul, M Ouachee-Chardin, J Amourette, M Lebras, C Gauvain, C Tcherakian, A Ikinciogullari, R Beyaert, L Abel, JD Milner, B Grimbacher, L Couderc, MJ Butte, AF Freeman, E Catherinot, C Fieschi, TA Chatila, SG Tangye, HH Uhlig, F Haerynck, JL Casanova, and A Puel. (2020) ­Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. Journal of Experimental Medicine. 217: 248-33.

G Bucciol, B Pillay, J Casas-Martin, S Delafontaine, M Proesmans, N Lorent, J Coolen, T Tousseyn, X Bossuyt, CS Ma, R Schrijvers, SG Tangye, L Moens and Isabelle Meyts. (2020) Systemic inflammation and myelofibrosis in a patient with Takenouchi-Kosaki syndrome due to CDC42 Tyr64Cys mutation. Journal of Clinical Immunology. 167: 2822-4.

SG Tangye and CS Ma. (2020) Regulation of the germinal centre and humoral immunity by IL-21. Journal of Experimental Medicine. 217: 984-97.