Areas of expertise

• Cellular Immunology 110704
• Autoimmunity 110703
• Immunogenetics (Incl. Genetic Immunology) 110706
• Immunology 1107
• Paediatrics 111403

Research interests

Publications

• Fornes, O, Jia, A, Kuehn, H et al. 2023, 'A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency', Science Immunology, vol. 8, no. 79, pp. 1-19.
• Almonte, A, Cavic, G, Neeman, T et al. 2022, 'Gut microbiome-depleting antibiotic regimens are not tolerated by all mouse strains: learn from (our) bitter experience', Journal for ImmunoTherapy of Cancer, vol. 10, no. 11.
• Sundararaj, S, Seneviratne, S, Williams, S et al. 2022, 'The molecular basis for the development of adult T-cell leukemia/lymphoma in patients with an IRF4K59R mutation', Protein Science, vol. 31, no. 4, pp. 787-796.
• Sundararaj, S, Seneviratne, S, Williams, S et al. 2021, 'Structural determinants of the IRF4/DNA homodimeric complex', Nucleic Acids Research, vol. 49, no. 4, pp. 2255-2265.
• Yabas, M, Yazicioglu, F, Hoyne, G et al. 2021, 'Loss of hnRNPLL-dependent splicing of Ptprc has no impact on B-cell development, activation and terminal differentiation into antibody-secreting cells', Immunology and Cell Biology, vol. 99, no. 5, pp. 532-541.
• Boast, B, Miosge, L, Kuehn, H et al. 2021, 'A point mutation in IKAROS ZF1 causes a B cell deficiency in mice', Journal of Immunology, vol. 206, no. 7, pp. 1505-1514.
• Niehues, T, Ozgur, T, Bickes, M et al. 2020, 'Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome', European Journal of Immunology, vol. 50, no. 7, pp. 1078-1080.
• Volpi, S, Cicalese, M, Tuijnenburg, P et al. 2019, 'A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency', Journal of Allergy and Clinical Immunology, vol. 143, no. 6, pp. 2296-2299.
• Jing, W, Yabas, M, Broer, A et al 2019, 'Calpain cleaves phospholipid flippase ATP8A1 during apoptosis in platelets', Blood Advances, vol. 3, no. 3, pp. 219-229pp.
• Jiang, S, Athanasopoulos, V, Ellyard, J et al. 2019, 'Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus', Nature Communications, vol. 10, no. 2201, pp. 1-12.
• Zammit, N, Siggs, O, Gray, P et al. 2019, 'Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity', Nature Immunology, vol. 20, no. 10.
• Ameratunga, R, Koopmans, W, Woon, S et al 2017, 'Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus', Clinical and Translational Immunology, vol. 6, no. 10, pp. 1-12pp.
• Masle-Farquhar, E, Broer, A, Yabas, M, Enders*, A and S. Broer* (*equal contribution). 2017, 'ASCT2 (SLC1A5)-Deficient Mice Have Normal B-Cell Development, Proliferation, and Antibody Production.', Frontiers in Immunology, vol. 8, no. 549, pp. 1-11.
• McNamara, H, Cai, Y, Wagle, M, Sontani, I, Roots, CM, Misoge, LA, O'Connor, JH, Sutton, HJ, Ganusov, VV, Heath, WR, Bertolino, P, Goodnow, CC, Parish, IA, Enders, A and I. Cockburn. 2017, 'Up-regulation of LFA-1 allows liver-resident memory T cells to patrol and remain in the hepatic sinusoids', Science Immunology, vol. 2, no. 9, pp. 1-10pp.
• Miosge, L, Sontani, Y, Chuah, A, Horikawa, K, Russel, TA, Mei, Y, Wagle, M, Howard, DR, Enders, A, Tscharke, DC, Goodnow, CC and IA Parish. 2017, 'Systems-guided forward genetic screen reveals a critical role of the replication stress response protein ETAA1 in T cell clonal expansion.', PNAS, Online, pp. 1-10pp..
• Sabouri-Thompson, Z, Perotti, S, Spierings, E, Humburg P, Yabas M, Bergmann H, Horikawa K, Roots C, Lambe S, Young C, Andrews TD, Field M, Enders A*, Reed JH*, Goodnow CC* (*Equal contribution) 2016, 'IgD attenuates the IgM-induced anergy response in transitional and mature B cells', Nature Communications, vol. 7, p. 13381.
• Koay, H, Gherardin, N, Enders, A et al 2016, 'A three-stage intrathymic development pathway for the mucosal-associated invariant T cell lineage', Nature Immunology, vol. 17, no. 11, pp. 1300-1311pp.
• Yabas, M, Jing, W, Shafik, S, Bröer S and A. Enders. 2016, 'ATP11C facilitates phospholipid translocation across the plasma membrane of all leukocytes', PLOS ONE (Public Library of Science), 2016 Jan 22;11(1):e0146774
• Kurts, C, Gottschalk, C, Bedoui, S, Heinzel, S, Godfrey, D and A. Enders, 2016, 'German Society for Immunology and Australasian Society for Immunology joint Workshop 3rd-4th December 2015 - Meeting report', European Journal of Immunology, vol. 46, no. 2, pp. 265-268.
• Miosge, L. A., M. A. Field, Y. Sontani, V. Cho, S. Johnson, A. Palkova, B. Balakishnan, R. Liang, Y. Zhang, S. Lyon, B. Beutler, B. Whittle, E. M. Bertram, A. Enders, C. C, Goodnow and T. D. Andrews. 2015, 'Comparison of predicted and actual consequences of missense mutations', PNAS - Proceedings of the National Academy of Sciences of the United States of America, vol. 112, no. 37, pp. E5189-E5198.
• Rahimpour, A., Koay, H. F., Enders, A., Clanchy, R., Eckle, S. B., Meehan, B., Chen, Z., Whittle, B., Liu, L., Fairlie, D. P., Goodnow, C. C., Mccluskey, J., Rossjohn, J., Uldrich, A. P., Pellicci, D. G. & Godfrey, D. I. 2015. Identification of phenotypically and functionally heterogeneous mouse mucosal-associated invariant T cells using MR1 tetramers. J Exp Med, vol. 212, no. 7, pp. 1095-108.
• Rensing-Ehl, A., U. Pannicke, S.-Y. Zimmermann, M. R. Lorenz, B. Neven, I. Fuchs, U. Salzer, C. Speckmann, A. Strauss, E. Maaß B. Collet, A. Enders, R. Favier, M. C. Alessi, F. Rieux-Laucat, B. Zieger, K. Schwarz and S. Ehl 2015, 'Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome', Blood, vol. 126, no. 16, pp. 1967-1969.
• Fuchs S, Rensing-Ehl A, Pannicke U, Lorenz MR, Fisch P, Jeelall Y, Rohr J, Speckmann C, Vraetz T, Farmand S, Schmitt-Graeff A, Krüger M, Strahm B, Henneke P, Enders A, Horikawa K, Goodnow C, Schwarz K, Ehl S. 2015, 'Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency', Blood, vol. 126, no. 14, pp. 1658-1669.
• Field, M.A., Cho, V., Cook, M.A., Enders, A., Vinuesa, C.G., Whittle, B., Andrews, T.D. and C.C. Goodnow 2015, 'Reducing the search space for causal genetic variants with VASP', Bioinformatics, pp. 1-3.
• Hillen, K. M., Gather, R., Enders, A., Pircher, H., Aichele, P., Fisch, P., Blumenthal, B., Schamel, W. W., Straub, T., Goodnow, C. C. & Ehl, S. 2015. T cell expansion is the limiting factor of virus control in mice with attenuated TCR signaling: implications for human immunodeficiency. J Immunol, vol. 194, no. 6, pp. 2725-34.
• Enders, A., Short, A., Miosge, L. A., Bergmann, H., Sontani, Y., Bertram, E. M., Whittle, B., Balakishnan, B., Yoshida, K., Sjollema, G., Field, M. A., Andrews, T. D., Hagiwara, H. & Goodnow, C. C. 2014. 'Zinc-finger protein ZFP318 is essential for expression of IgD, the alternatively spliced Igh product made by mature B lymphocytes', PNAS - Proceedings of the National Academy of Sciences of the United States of America, vol. 111, no. 12, pp. 4513-4518.
• Yabas, M, Coupland, L.A., Cromer, D., Winterberg, M., Teoh, N.C. D'Rozario, J., Kirk, K., Bröer, S., Paris, C.R. and A. Enders 2014, 'Mice deficient in the putative phospholipid flippase ATP11C exhibit altered erythrocyte shape, anemia, and reduced erythrocyte life span', Journal of Biological Chemistry, 289, 19531-19537.
• Cho, V., Mei, Y., Sanny, A., Chan, S., Enders, A., Bertram, E. M., Tan, A., Goodnow, C. C. & Andrews, T. D. 2014, 'The RNA-binding protein hnRNPLL induces a T cell alternative splicing program delineated by differential intron retention in polyadenylated RNA', Genome Biology, vol. 15, no. 1, pp. R26/1-17.
• Crawford, G.*, Enders, A.*, Gileadi, U.*, (*Equal contribution), Stankovic, S., Zhang, Q., Lambe, T., Crockford, T. L., Lockstone, H. E., Freeman, A., Arkwright, P. D., Smart, J. M., Ma, C. S., Tangye, S. G., Goodnow, C. C., Cerundolo, V., Godfrey, D. I., Su, H. C., Randall, K. L. & Cornall, R. J. 2013. DOCK8 is critical for the survival and function of NKT cells. Blood, vol. 122, no. 12, pp. 2052-2061.
• Myers, D. R., Polakos, N. K., Enders, A., Roots, C. M., Balakishnan, B., Miosge, L. A., Sjollema, G., Bertram, E. M., Field, M. A., Shao, Y., Andrews, T. D., Whittle, B., Barnes, S. W., Walker, J. R., Cyster, J. G., Goodnow, C. C. & Roose, J. P. 2013, 'Rasgrp1 mutation increases naive T-cell CD44 expression and drives mTOR-dependent accumulation of Helios⁺ T cells and autoantibodies', eLife, vol. 2013, no. 2, pp. 1-26.
• Bergmann, H., Yabas, M., Short, A., Miosge, L., Barthel, N., Teh, C.E., Roots, C.M., Bull, K.R., Jeelall, Y., Horikawa, K., Whittle, B., Balakishnan, B., Sjollema, G., Bertram, E.M. Mackay, F., Rimmer, A.J., Cornall, R.J., Field, M.A., Andrews, T.D., Goodnow, C.C. and A. Enders 2013, 'B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8- dendritic cells require the intramembrane endopeptidase SPPl2A', Journal of Experimental Medicine, vol. 210, no. 1, pp. 31-40.
• Teh, C. E., Horikawa, K., Arnold, C. N., Beutler, B., Kucharska, E. M., Vinuesa, C. G., Bertram, E. M., Goodnow, C. C. & Enders, A. 2013. Heterozygous mis-sense mutations in Prkcb as a critical determinant of anti-polysaccharide antibody formation. Genes and immunity, vol. 14, no. 4, pp. 223-233.
• Stepensky, P., Keller, B., Buchta, M., Kienzler, A.-K., Elpeleg, O., Somech, R., Cohen, S., Shachar, I., Miosge, L. A., Schlesier, M., Fuchs, I., Enders, A., Eibel, H., Grimbacher, B. & Warnatz, K. 2013. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. The Journal of allergy and clinical immunology, vol. 131, no. 2, pp. 477-485.e1.
• Bull, K. R., Rimmer, A. J., Siggs, O. M., Miosge, L. A., Roots, C. M., Enders, A., Bertram, E. M., Crockford, T. L., Whittle, B., Potter, P. K., Simon, M. M., Mallon, A.-M., Brown, S. D. M., Beutler, B., Goodnow, C. C., Lunter, G. & Cornall, R. J. 2013, 'Unlocking the Bottleneck in Forward Genetics Using Whole-Genome Sequencing and Identity by Descent to Isolate Causative Mutations', PLoS Genetics, vol. 9, no. 1, pp. e1003219/1-12.
• Enders, A., Stankovic, S., Teh, C., Uldrich, A. P., Yabas, M., Juelich, T., Altin, J. A., Frankenreiter, S., Bergmann, H., Roots, C. M., Kyparissoudis, K., Goodnow, C. C. & Godfrey, D. I. 2012. ZBTB7B (Th-POK) regulates the development of IL-17-producing CD1d-restricted mouse NKT cells. Journal of immunology, vol. 189, no. 11, pp. 5240-5249.
• Andrews, T. D., Whittle, B., Field, M. A., Balakishnan, B., Zhang, Y., Shao, Y., Cho, V., Kirk, M., Singh, M., Xia, Y., Hager, J., Winslade, S., Sjollema, G., Beutler, B., Enders, A. & Goodnow, C. C. 2012. Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models. Open biology, 2, 120061.
• Yabas, M., Teh, C. E., Frankenreiter, S., Lal, D., Roots, C. M., Whittle, B., Andrews, D. T., Zhang, Y., Teoh, N. C., Sprent, J., Tze, L. E., Kucharska, E. M., Kofler, J., Farell, G. C., Bröer, S., Goodnow, C. C. & Enders, A. 2011. ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes. Nature Immunology, 12, 441-449.
• Jessen, B., Maul-Pavicic, A., Ufheil, H., Vraetz, T., Enders, A., Lehmberg, K., Längler, A., Gross-Wieltsch, U., Bay, A., Kaya, Z., Bryceson, Y. T., Koscielniak, E., Badawy, S., Davies, G., Hufnagel, M., Schmitt-Graeff, A., Aichele, P., Zur Stadt, U., Schwarz, K. & Ehl, S. 2011. 'Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome', Blood, vol. 118, no. 17, pp. 4620-4629.
• Teh, C. E., Daley, S. R., Enders, A. & Goodnow, C. C. 2010. 'T-cell regulation by casitas B-lineage lymphoma (Cblb) is a critical failsafe against autoimmune disease due to autoimmune regulator (Aire) defciency', PNAS - Proceedings of the National Academy of Sciences of the United States of America, vol. 107, no. 33, pp. 14709-14714.
• Theodoratos, A., Whittle, B., Enders, A., Tscharke, D. C., Roots, C. M., Goodnow, C. C. & Fahrer, A. M. 2010. 'Mouse strains with point mutations in TAP1 and TAP2', Immunology and Cell Biology, vol. 88, pp. 72-78.
• Randall, K. L., Lambe, T., Johnson, A., Treanor, B., Kucharska, E. M., Domaschenz, H., Whittle, B., Tze, L. E., Enders, A., Crockford, T. L., Bouriez-Jones, T., Alston, D., Cyster, J. G., Lenardo, M. J., Mackay, F., Deenick, E. K., Tangye, S. G., Chan, T. D., Camidge, T., Brink, R., Vinuesa, C. G., Batista, F. D., Cornall, R. J. & Goodnow, C. C. 2009. 'Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production', Nature Immunology, vol. 10, no. 12, pp. 1283-1291.
• Jenne, C. N., Enders, A., Rivera, R. R., Watson, S. R., Bankovich, A. J., Pereira, J. P., Xu, Y., Roots, C. M., Beilke, J. N., Banerjee, A., Reiner, S. L., Miller, S. A., Weinmann, A. S., Goodnow, C. C., Lanier, L. L., Cyster, J. G. & Chun, J. 2009. 'T-bet-dependent S1P5 expression in NK cells promotes egress from lymph nodes and bone marrow', Journal of Experimental Medicine, vol. 206, no. 11, pp. 2469-2481.
• Speckmann, C., Enders, A., Woellner, C., Thiel, D., Rensing-Ehl, A., Schlesier, M., Rohr, J., Jakob, T., Oswald, E., Kopp, M. V., Sanal, O., Litzman, J., Plebani, A., Pietrogrande, M. C., Franco, J. L., Espanol, T., Grimbacher, B. & Ehl, S. 2008, 'Reduced memory B cells in patients with hyper IgE syndrome', Clinical Immunology, vol. 129, no. 3, pp. 448-454.
• Liston, A, Enders, A & Siggs, O 2008, 'Unravelling the association of partial T-cell immunodeficiency and immune dysregulation', Nature Reviews Immunology, vol. 80, pp. 545-558.
• Vallbracht, S., Jessen, B., Mrusek, S., Enders, A., Collins, P. L., Ehl, S. & Krempl, C. D. 2007, 'Influence of a Single Viral Epitope on T Cell Response and Disease After Infection of Mice with Respiratory Syncytial Virus', Journal of Immunology, vol. 179, pp. 8264-8273.
• Enders, A., Zieger, B., Schwarz, K., Yoshimi, A., Speckmann, C., Knoepfle, E.-M., Kontny, U., Müller, C., Nurden, A., Rohr, J., Henschen, M., Pannicke, U., Niemeyer, C., Nurden, P. & Ehl, S. 2006. 'Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II', Blood, vol. 108, no. 1, pp. 81-87.
• Enders, A., Fisch, P., Schwarz, K., Duffner, U., Pannicke, U., Nikolopoulos, E., Peters, A., Orlowska-Volk, M., Schindler, D., Friedrich, W., Selle, B., Niemeyer, C. & Ehl, S. 2006. 'A Severe Form of Human Combined Immunodeficiency Due to Mutations in DNA Ligase IV', Journal of Immunology, vol. 176, no. 8, pp. 5060-5068.
• Ehl, S., Schwarz, K., Enders, A., Duffner, U., Pannicke, U., Kühr, J., Mascart, F., Schmitt-Graeff, A., Niemeyer, C. & Fisch, P. 2005. 'A variant of SCID with specific immune responses and predominance of gamma delta T cells', Journal of Clinical Investigation, vol. 115, no. 11, pp. 3140-3148.
• Rössler, J., Enders, A., Lahr, G., Heitger, A., Winkler, K., Fuchs, H., Kopp, M., Niemeyer, C. & Ehl, S. 2005. Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. The Journal of pediatrics, 147, 691-694.
• Mrusek, S., Marx, A., Kummerle-Deschner, J., Tzaribachev, N., Enders, A., Riede, U.-N., Warnatz, K., Dannecker, G. E. & Ehl, S. 2004. Development of granulomatous common variable immunodeficiency subsequent to infection with Toxoplasma gondii. Clinical and experimental immunology, 137, 578-583.
• Enders, A., Pannicke, U., Berner, R., Henneke, P., Radlinger, K., Schwarz, K. & Ehl, S. 2004. 'Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor associated kinase 4', Journal of Pediatrics, vol. 145, no. 5, pp. 698-700.
• Enders, A., Bouillet, P., Puthalakath, H., Xu, Y., Tarlinton, D. M. & Strasser, A. 2003. 'Loss of the pro-apoptotic BH3-only Bcl-2 family member Bim inhibits BCR stimulation-induced apoptosis and deletion of autoreactive B cells', Journal of Experimental Medicine, vol. 198, no. 7, pp. 1119-1126.

Projects and Grants

Grants information is drawn from ARIES. To add or update Projects or Grants information please contact your College Research Office.

• Pursuing IRF4 as a therapeutic opportunity for lymphoid malignancies (Primary Investigator)
• Sewerage Surveillance for SARS-CoV-2 in the ACT (Secondary Investigator)
• Modeling human Actin Related Protein 2/3 Complex subunit 1B (ARPC1B) deficiency in mice (Primary Investigator)
• How BANK1 pathway defects in B cells cause human lupus (Secondary Investigator)
• Cholestasis and hepatocyte injury in chronic liver disease (Secondary Investigator)
• Role of SPPL2A on B cell survival and antibody production in mice and humans (Primary Investigator)
• Centre for Personalised Immunology (Secondary Investigator)
• Phospholipid dependent signaling in B-cells (Secondary Investigator)
• Investigating B cell development, maintenance and high-affinity antibody production by ENU mutagenesis (Primary Investigator)
• Understanding the pathogenesis and heterogeneity of autoimmunity as failure of multiple steps (Primary Investigator)

Related websites

• http://jcsmr.anu.edu.au/research/immunology/immunogenomics/ramaciotti-immunization-genomics