Dr Cindy Ma

Group Leader - Human Immune Disorders

Senior Research Officer

Conjoint/Adjunct Role(s)

Conjoint Lecturer, St Vincent's Clinical School, Faculty of Medicine, UNSW Australia

Dr Cindy Ma obtained her PhD from the University of Sydney in 2006 and is currently an NHMRC-funded Career Development Fellow and Group Leader in the Immunology Division at the Garvan Institute of Medical Research.

Her research interests lie in studying human immune disorders. These research interests stemmed form her PhD, 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.

Dr Ma’s work at the Garvan Institute continues to investigate human immunodeficiencies and autoimmune diseases and the subsequent disruptions to lymphocyte activation, differentiation and general behaviour. Some of these disorders include Hyper IgE syndrome, Hyper IgM syndrome, Mendalian Susceptibility to Mycobacterial Disease, Common Variable Immunodeficiency, X-linked agammaglobulinemia, and Sjogren’s syndrome.

Research Interests

Primary Immunodeficiency
Autoimmunity
CD4+ T cell differentiation
T follicular helper cells
Humoral immune response
B cell differentiation

Awards and Honours

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

Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Sebnem Kilic S, El Baghdadi J, Nonoyama S, Alireza Mahdaviani S, Ailal F,  Bousfiha A, Mansouri D, Nievas E, Ma C, Rao G, Bernasconi A, Kuehn HS, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, Sabri A, Lim CK, Sundin M, Avery DT,  Halwani R, Grant AV, Boisson B, Bogunovic D, Itan Y, Moncada-Velez M, Martinez-Barricarte R, Migaud M, Deswarte C, Alsina L,  Kotlarz D, Klein C, Muller-Fleckenstein I, Fleckenstein B, Cormier-Daire V, Rose-John S, Picard C, Hammarstrom L, Puel A, Al-Muhsen S, Abel L, Chaussabel D, Rosenzweig SD, Minegishi Y, Tangye SG, Bustamante J, Casanova JL, Boisson-Dupuis S. 2015. Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. J Exp Med (EPub 24 August 2015) 

S Okada, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Henderson L, Marzouqa H, Shamma J, Gonzalez M, Martinez-Baricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Lindestam Arlehamn CS, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay J-P, Moshous D, Hambleton S, Latour S, Arkwright P, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL. Impairment of IL-17 immunity to Candida and IFN-g immunity to Mycobacterium in humans with inherited RORgT deficiency. Science (published online 10th July 2015)

C Ma, N Wong, G Rao, D Avery, J Torpy, J Bustamante, J Okada, J Stoddard, EK Deenick, S Pelham, S Boisson-Dupuis, A Puel, M Kobayashi, P Arkwright, SS Kilic, J El Baghdadi, S Nonoyama, Y Minegishi, SA Mahdaviani, D Mansouri, A Bousfiha, M French, P Hsu, D Campbell, M Stormon, M Wong, S Adelstein, J Smart, D Fulcher, M Cook, TG Phan, P Stepensky, K Boztug, A Ikincioğullari, R Beier, J Ziegler, P Gray, C Picard, B Grimbacher, K Warnatz, S Holland, JL Casanova, G Uzel, SG Tangye. 2015. Monogenic mutations differentially impact the quantity and quality of T follicular helper cells inhuman primary immunodeficiencies. J Allergy Clin Immunol. 136. July 2015.

AY Kreins, M Ciancanelli, S Okada, X-F Kong, N Ramirez-Alejo, SS Kilic, J El Baghdadi, S Nonoyama, S Alireza Mahdaviani, F Ailal,A Bousfiha D Mansouri, E Nievas, CS Ma, A Bernasconi, H Kuehn, J Niemela, J Stoddard, P Deveau, A Cobat, S El Azbaoui, A Sabri, R Halwani, A Grant, B Boisson, D Bogunovic, Y Itan, M Moncada-Velez, R Martinez-Barricarte, M Migaud, C Deswarte, L Alsina,D Kotlarz, C Kle+in, I Muller-Fleckenstein, B Fleckenstein, V Cormier-Daire, S Rose-John, C Picard, L Hammarstrom, A Puel, S Al-Muhsen, L Abel, D Chaussabel, S Rozensweig, Y Minegishi, SG Tangye, J Bustamante, J-L Casanova, and S Boisson-Dupuis. 2015. Human TYK2 deficiency: mycobacterial and viral infections without hyper IgE syndrome. Journal of Experimental Medicine (in press) 2015

R Wilson, ML Ives, G Rao, A Lau, K Payne, M Kobayashi, PD Arkwright, J Peake, M Wong, S Adelstein, JM Smart, MA French, DA Fulcher, C Picard, J Bustamante, S Boisson-Dupuis, P Gray, P Stepensky, K Warnatz, A Freeman, J Rossjohn, J McCluskey, S Holland, J-L Casanova, G Uzel, CS Ma, SG Tangye, and EK Deenick. 2015. STAT3 is a critical cell intrinsic regulator of human unconventional T cell numbers and function. Journal of Experimental Medicine. 212: 855-864. July 2015

D Butt, TD Chan, K Bourne, JR Hermes, A Nguyen, A Statham, LA O’Reilly, A Strasser, S Price, P Schofield, D Christ, A Basten, CS Ma, SG Tangye, TG Phan, VK Rao, and R Brink. 2015.  FAS inactivation releases unconventional germinal center B cells that escape antigen control and drive IgE and autoantibody production. Immunity. 42: 890-902. May 2015

CS Ma and EK Deenick. 2014. Human T follicular helper (Tfh) cells and disease. Immunology and Cell Biology

LJ Berglund, DT Avery, CS Ma, L Moens, EK Deenick, J Bustamante, S Boisson-Dupuis, M Wong, S Adelstein, PD Arkwright, R Bacchetta, L Berzrednik, H Dadi, C Roifman, DA Fulcher, JB Ziegler, JM Smart, M Kobayashi, C Picard, A Durandy, MC Cook, J-L Casanova, G Uzel, and SG Tangye. 2013.  IL-21 Signaling via STAT3 primes human naïve B cells to respond to IL-2 to enhance their differentiation into plasmablasts. Blood. 122: 3940-3950.  
 
J He, LM Tsai, YA Leong, X Hu, CS Ma, N Chevalier, X Sun, K Vandenberg, S Rockman, Y Ding, L Zhu, W Wei, C Wang, A Karnowski, CT Belz, JR Ghali, MC Cook, DS Riminton, A Veillette, PL Schwartzberg, F Mackay, R Brink, SG Tangye, CG Vinuesa, CR Mackay, Z Li, and D Yu. 2013. Circulating precursor CCR7loPD-1hi CXCR5+ CD4+ T cells indicate Tfh cell activity and promote antibody responses upon antigen reexposure. Immunity. 39: 770-781. 

EK Deenick, DT Avery, A Chan, LJ Berglund, ML Ives, L Moens, JL Stoddard, J Bustamante, S Boisson-Dupuis, M Tsumura, M Kobayashi, PD Arkwright, D Averbuch, D Engelhard, K Magdorf, J Roesler, J Peake, M Wong, S Adelstein, S Choo, JM Smart, MA French, DA Fulcher, MC Cook, C Picard, A Durandy, C Klein, SM Holland, G Uzel, J-L Casanova, CS Ma, and SG Tangye. 2013. Naïve and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells. Journal of Experimental Medicine. 210: 2739-2753. 

B Boisson, Y-D Wang, A Bosompem, CS Ma, A Lim, T Kochetkov, SG Tangye, J-L Casanova, and ME Conley. 2013. A Recurrent Dominant-Negative Mutation in E47 in Patients with BCR- B Cells and Agammaglobulinemia. Journal of Clinical Investigation. 123: 4781-4785.  

G Crawford, A Enders, U Gileadi, S Stankovic, Q Zhang, T Lambe, TL Crockford, HE Lockstone, A Freeman, PD Arkwright, JM Smart, CS Ma, SG Tangye, CC Goodnow, V Cerundolo, DI Godfrey, HC Su, KL Randalland RJ Cornall. 2013. DOCK8 is critical for the survival and function of NKT cells. Blood. 122: 2052-2061.  

ML Ives, CS Ma, U Palendira, A Chan, J Bustamante, S Boisson-Dupuis, PD Arkwright, D Engelhard, D Averbuch, K Magdorf, J Roesler, J Peake, M Wong, S Adelstein, S Choo, JM Smart, MA French, DA Fulcher, MC Cook, C Picard, A Durandy, M Tsumura, M Kobayashi, G Uzel, J-L Casanova, SG Tangye, and EK Deenick. 2013. Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD81 T-cell memory formation and function. Journal of Allergy and Clinical Immunology. 132: 400-411.  

M Byun, CS Ma, A Akçay, V Pedergnana, U Palendira, J Myoung, DT Avery, Y Liu, A Abhyankar, L Lorenzo, M Schmidt, H Kyung Lim, O Cassar, M Migaud, F Rozenberg, N Canpolat, G Aydogan, B Fleckenstein, J Bustamante, C Picard, A Gessain, E Jouanguy, E Cesarman, M Olivier, P Gros, L Abel, M Croft, SG Tangye and J-L Casanova. 2013. Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. Journal of Experimental Medicine. 210: 1743-1759.  

A Crequer, A Troeger, E Patin, CS Ma, C Picard, V Pedergnana, C Fieschi, A Lim, A Abhyankar, L Gineau, I Mueller-Fleckenstein, M Schmidt, A Taieb, J Krueger, L Abel, SG Tangye, G Orth, DA Williams, J-L Casanova, and E Jouanguy. 2012. RhoH deficnecy in a kindred with a T-cell deficit and susceptibility to persistent EV-HPV infections. Journal of Clinical Investigation. 122: 3239-3247.  

CS Ma, EK Deenick, M Batten, and SG Tangye. 2012. The origins, function and regulation of T follicular helper cells. Journal of Experimental Medicine. 209: 1241-1253.  

CS Ma, DT Avery, A Chan, M Batten, J Bustamante, S Boisson-Dupuis, PD Arkwright, Y Minegishi, S Nonoyama, MA French, S Choo, JM Smart, J Peake, M Wong, P Gray, MC Cook, DA Fulcher, J-L Casanova, EK Deenick, and SG Tangye. 2012. Functional STAT3 deficiency compromises the generation of human T follicular helper cells. Blood. 119: 3997-4008.  

U Palendira, C Low, AI Bell, CS Ma, RJM Abbott, TG Phan, DS Riminton, S Choo, JM Smart, V Lougaris, S Giliani, RH Buckley, B Grimbacher, F Alvaro, AD Klion, KE Nichols, S Adelstein, AB Rickinson, and SG Tangye. 2012. Expansion of somatically reverted memory CD8+ T cells in X-linked lymphoproliferative disease is de to selective pressure from Epstein Barr virus. Journal of Experimental Medicine. 209: 913-924.  

P-P Chang, P Barral, J Fitch, A Pratama, CS Ma, A Kallies, JJ Hogan, V Cerundolo, SG Tangye, R Bittman, SL Nutt, R Brink, DI Godfrey, FD Batista, and CG Vinuesa. 2012.  Identification of Bcl-6-dependent follicular helper NKT cells that provide cognate help for B cell responses. Nature Immunology. 13: 35-43.  

KL Randall*, SS-Y Chan*, CS Ma*, I Fung*, Y Mei, M Yabas, A Tan, PD Arkwright, A Al Suwairi, S Oswaldo Lugo Reyes, MA Yamazaki-Nakashimada, M de la Luz Garia-Cruz, JM Smart, C picard, S Okada, E Jouanguy, JL Casanova, T Lambe, RJ Cornall, S Russell, J Oliaro, SG Tangye, EM Bertram, and CG Goodnow. 2011. DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. Journal of Experimental Medicine. 208: 2305-20. *equal contribution.  

HM McGuire, A Vogelzang, CS Ma, WE Hughes, PA Silveira, SG Tangye, D Christ, D Fulcher, M Falcone and C King. 2011.  A subset of interleukin-21+ chemokine receptor CCR9+ T helper cells target accessory organs of the digestive system in autoimmunity. Immunity. 34: 602-615.  

N Chevalier, D Jarrossay, E Ho, DT Avery, CS Ma, D Yu, F Sallusto, SG Tangye and CR Mackay. 2011. CXCR5 expressing human central memory CD4 T cells and their relevance for humoral immune responses. Journal of Immunology. 186: 5556-5568.  

M Batten, N Ramamoorthi, NM Kljavin, CS Ma, JH Cox, HS Dengler, DM Danilenko, P Caplazi, M Wong, DA Fulcher, MC Cook, C King, SG Tangye, FJ de Sauvage and N Ghilardi. 2010. IL-27 supports germinal center function by enhancing IL-21 production and the function of T follicular helper cells. Journal of Experimental Medicine. 207: 2895-2906.  

EK Deenick, A Chan, CS Ma, D Gatto, PL Schwartzberg, R Brink, and SG Tangye. 2010. Follicular helper T cell differentiation requires continuous antigen presentation that is independent of unique B cell signalling. Immunity. 33: 241–253.  

EA Tindall, G Severi, HN Hoang, CS Ma, P Fernandez, MC Southley, DR English, JL Hopper, CF Heyns, SG Tangye, GG Giles, VM Hayes and the Australian Protate Cancer BioResource. 2010. Comprehensive analysis of the cytokine rich chromosome 5q31.1 region suggests a role for IL-4 gene variants in prostate cancer risk. Carcinogenesis. 31: 1748-1754.   

DT Avery*, EK Deenick*, CS Ma*, S Suryani, N Simpson. GY Chew, TD Chan, U Palendira, J Bustamante, S Boisson-Dupuis, S Choo, KE Bleasel, J Peake, MA French, D Engelhard, S Al-Hajjar, S Al-Muhsen, K Magdorf, J Roesler, PD Arkwright, P Hissaria, DS Riminton, M Wong, R Brink, DA Fulcher, JL Casanova, MC Cook, and SG Tangye. 2010. B-cell intrinsic signalling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. Journal of Experimental Medicine.  207: 155-171  *equal contribution

CS Ma, S Suryani, DT Avery, A Chan, R Nanan, B Santner-Nanan, EK Deenick, SG Tangye. 2009. Early commitment of naïve human CD4+ T cells to the T follicular helper (TFH) cell lineage is induced by IL-12. Immunology and Cell Biology. 87: 590-600.

D Yu, S Rao, LM Tsai, SK Lee, Y He, EL Sutcliffe, M Srivastava, M Linterman, L Zheng, N Simpson, JI Ellyard, IA Parish, CS Ma, QJ Li, CR Parish, CR Mackay and CG Vinuesa.  2009. The transcriptional repressor Bcl-6 directs T follicular helper lineage commitment. Immunity. 31: 457-468.  

DT Avery, CS Ma, VL Byrant, B Santner-Nanan, R Nanan, M Wong, DA Fulcher, MC Cook and SG Tangye.  2008. STAT3 is required for IL-21-induced secretion of IgE from human naive B cells. Blood. 112:1784-1793.  

DT Avery*, VL Byrant*, CS Ma*, R de Waal Malefyt and SG Tangye. 2008. IL-21-induced isotype switching to IgG and IgA by human naive B cells is differentially regulated by IL-4. Journal of Immunology. 181: 1767-1779  *equal contribution

S Chaganti*, CS Ma*, AI Bell, D Croom-Carter, AD Hislop, SG Tangye and AB Rickinson. 2008. Epstein-Barr virus persistence in the absence of conventional memory B cells: IgM+IgD+ CD27+ B cells harbour the virus in X-linked lymphoproliferative disease patients. Blood. 112: 672-679 *equal contribution

CS Ma, GYJ Chew, N Simpson, A Priyadarshi, M Wong, B Grimbacher, DA Fulcher, SG Tangye and MC Cook.  2008. Deficiency of Th17 cells in hyper IgE syndrome due to mutations is STAT3. The Journal of Experimental Medicine. 205: 1551-1557. 

VL Bryant, CS Ma, DT Avery, Y Li, KL Good, LM Corcoran, R de Waal Malefyt and SG Tangye.  2007. Cytokine-mediated regulation of human B cell differentiation into Ig-secreting cells: predominant role of IL-21 produced by CXCR5+ T follicular helper cells. Journal of Immunology. 179: 8180-8190. 

CS Ma, KE Nichols and SG Tangye. 2007. Regulation of cellular and humoral immune responses by the SLAM and SAP families of molecules. Annual Review of Immunology. 25: 337-379.  

NJ Hare, CS Ma, F Alvaro, KE Nichols and SG Tangye.  Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP.  International Immunology. 18: 1055-1065. 2006

CS Ma, S Pittaluga, DT Avery, NJ Hare, I Maric, AD Klion, KE Nichols, and SG Tangye. Selective generation of functional somatically mutated IgM+CD27+, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative diseaseJournal of Clinical Investigation. 2006; 116: 322-333. 2006

CS Ma, NJ Hare, KE Nichols, L Dupre, MG Roncarolo, S Adelstein, PD Hodgkin and SG Tangye. Impaired humoral immunity in XLP is associated with defective IL-10 production by CD4+ T cells. Journal of Clinical Investigation. 115: 1049-1059. 2005

KE Nichols, J Hom, SY Gong, A Ganguly, CS Ma, JL Cannons, SG Tangye, PL Schwartzberg, GA Koretzy and PL Stein. Regulation of NKT cell development by SAP, the protein defective in XLP. Nature Medicine. 2005; 11: 340-345. 2005

CS Ma, PD Hodgkin and SG Tangye. Automatic generation of lymphocyte heterogeneity: Division-dependent changes in the expression of CD27, CCR7 and CD45 by activated human naïve CD4+ T cells are independently regulated. Immunology and Cell Biology. 82: 67-74.  2004.

SG Tangye, A Ferguson, DT Avery, CS Ma and PD Hodgkin. 2002. Isotype switching by human B cells is division-associated and regulated by cytokines. Journal of Immunology. 169: 4298-4306. 

 

 

Dr Cindy Ma