Associate Professor Anselm Enders

MD
Senior Research Fellow

Research interests

The laboratory focuses on elucidating the genes and mechanisms controlling the development and function of B cells and other lymphocytes. To find new genes involved in B cell development we do screening of mice after random ENU mutagenesis. This process has led to the discovery of essential roles for different genes in the development, survival or function of B cells. Some key results were the discovery that defects in ATP11C, a phospholipid transporter, block early B cell development in the bone marrow and that the endosomal peptidase SPPL2A is essential for the survival of mature B cells. In NHMRC funded research projects we are currently following up on these discoveries to understand the molecular mechanism underlying the observed defects.

Another recent focus in my group is the identification of novel causes for primary human immunodeficiencies. In collaboration with clinical groups in Australia and overseas we have sequenced the genome of patients without a known genetic cause. This has led to the discovery of the most likely causal mutation in different genes that were previously not known to be involved in the immune system. We are currently generating mouse models with the same mutations to better understand the molecular basis for the disease.

Research interests

Development and function of B cells

Human Immunodeficiency

Lymphocyte development and differentiation.

Genetic basis of autoimmunity

Selected Publications

For a full list of Publications please see: http://www.researcherid.com/rid/B-1165-2011

Jiang, S. H., Athanasopoulos, V., Ellyard, J. I., Chuah, A., Cappello, J., Cook, A., Prabhu, S. B., Cardenas, J., et al. (2019) 'Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus', Nat Commun, 10(1), pp. 2201.

Volpi, S., Cicalese, M. P., Tuijnenburg, P., Tool, A. T. J., Cuadrado, E., Abu-Halaweh, M., Ahanchian, H., Alzyoud, R., et al. (2019) 'A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency', J Allergy Clin Immunol.

Jing, W., Yabas, M., Broer, A., Coupland, L., Gardiner, E. E., Enders, A. and Broer, S. (2019) 'Calpain cleaves phospholipid flippase ATP8A1 during apoptosis in platelets', Blood Adv, 3(3), pp. 219-229.

Miosge, L. A., Sontani, Y., Chuah, A., Horikawa, K., Russell, T. A., Mei, Y., Wagle, M. V., Howard, D. R., et al. (2017) 'Systems-guided forward genetic screen reveals a critical role of the replication stress response protein ETAA1 in T cell clonal expansion', Proc Natl Acad Sci U S A, 114(26), pp. E5216-E5225.

Masle-Farquhar, E., Broer, A., Yabas, M., Enders, A. and Broer, S. (2017) 'ASCT2 (SLC1A5)-Deficient Mice Have Normal B-Cell Development, Proliferation, and Antibody Production', Front Immunol, 8, pp. 549.

Sabouri, Z., Perotti, S., Spierings, E., Humburg, P., Yabas, M., Bergmann, H., Horikawa, K., Roots, C., et al. (2016) 'IgD attenuates the IgM-induced anergy response in transitional and mature B cells', Nat Commun, 7, pp. 13381.

Yabas, M., Jing, W., Shafik, S., Broer, S. and Enders, A. (2016) 'ATP11C Facilitates Phospholipid Translocation across the Plasma Membrane of All Leukocytes', PLoS One, 11(1), pp. e0146774.

Miosge, L. A., Field, M. A., Sontani, Y., Cho, V., Johnson, S., Palkova, A., Balakishnan, B., Liang, R., et al. (2015) 'Comparison of predicted and actual consequences of missense mutations', Proc Natl Acad Sci U S A, 112(37), pp. E5189-98.

Rensing-Ehl, A., Pannicke, U., Zimmermann, S. Y., Lorenz, M. R., Neven, B., Fuchs, I., Salzer, U., Speckmann, C., et al. (2015) 'Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome', Blood, 126(16), pp. 1967-9.

Fuchs, S., Rensing-Ehl, A., Pannicke, U., Lorenz, M. R., Fisch, P., Jeelall, Y., Rohr, J., Speckmann, C., et al. (2015) 'Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency', Blood, 126(14), pp. 1658-69

Enders, A., Short, A., Miosge, L. A., Bergmann, H., Sontani, Y., Bertram, E. M., Whittle, B., Balakishnan, B., et al. (2014) 'Zinc-finger protein ZFP318 is essential for expression of IgD, the alternatively spliced Igh product made by mature B lymphocytes', Proc Natl Acad Sci U S A, 111(12), pp. 4513-8.

Yabas, M., Coupland, L. A., Cromer, D., Winterberg, M., Teoh, N. C., D'Rozario, J., Kirk, K., Broer, S., et al. (2014) 'Mice deficient in the putative phospholipid flippase ATP11C exhibit altered erythrocyte shape, anemia, and reduced erythrocyte life span', J Biol Chem, 289(28), pp. 19531-7.

Crawford, G., Enders, A., Gileadi, U., Stankovic, S., Zhang, Q., Lambe, T., Crockford, T. L., Lockstone, H. E., et al. (2013) 'DOCK8 is critical for the survival and function of NKT cells', Blood, 122(12), pp. 2052-61.

Teh, C. E., Horikawa, K., Arnold, C. N., Beutler, B., Kucharska, E. M., Vinuesa, C. G., Bertram, E. M., Goodnow, C. C. and Enders, A. (2013) 'Heterozygous mis-sense mutations in Prkcb as a critical determinant of anti-polysaccharide antibody formation', Genes Immun, 14(4), pp. 223-33.

Bergmann, H., Yabas, M., Short, A., Miosge, L., Barthel, N., Teh, C. E., Roots, C. M., Bull, K. R., et al. (2013) 'B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8- dendritic cells require the intramembrane endopeptidase SPPL2A', J Exp Med, 210(1), pp. 31-40.

Stepensky, P., Keller, B., Buchta, M., Kienzler, A. K., Elpeleg, O., Somech, R., Cohen, S., Shachar, I., et al. (2013) 'Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects', J Allergy Clin Immunol, 131(2), pp. 477-85 e1.