The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA
Open accessAbstract
Background A number of heritable immune dysregulatory diseases result from defects affecting T regulatory (TR) cell development and/or function. They include Immune dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX), due to mutations in FOXP3, and IPEX-like disorders caused by mutations in IL2RA, STAT5b and STAT1. However, the genetic defects underlying many cases of IPEX-like disorders remain unknown. Objective We sought to identify the genetic abnormalities in subjects with idiopathic IPEX-like disorders. Methods We performed whole exome and targeted gene sequencing, and phenotypic and functional analyses of TR cells. Results A child who presented with an IPEX-like syndrome and severe TR cell deficiency was found to harbor a nonsense mutation in the gene encoding LPS-responsive beige-like anchor (LRBA), previously implicated as cause of common variable immunodeficiency with autoimmunity. Analysis of subjects with LRBA deficiency revealed marked TR cell depletion, profoundly decreased expression of canonical TR cell markers, including FOXP3, CD25, Helios, and CTLA4 and impaired TR cell-mediated suppression. There was skewing in favor of memory T cells and intense autoantibody production with marked expansion of T follicular helper and contraction of T follicular regulatory cells. Whereas the frequency of recent thymic emigrants and the differentiation of induced TR cells were normal, LRBA-deficient T cells exhibited increased apoptosis and reduced activities of the metabolic sensors mammalian target of rapamycin 1 and 2 complexes. Conclusion LRBA deficiency is a novel cause of IPEX-like syndrome and TR cell deficiency associated with metabolic dysfunction and increased apoptosis of TR cells.
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Van der Auwera, G. A., Carneiro, M. O., Hartl, C., Poplin, R., del Angel, G., Levy‐Moonshine, A., Jordan, T., Shakir, K., Roazen, D., Thibault, J., et al. (2013) · Current Protocols in Bioinformatics · doi:10.1002/0471250953.bi1110s43 · Cited by 6,687
Regulatory T cells: mechanisms of differentiation and function
Josefowicz, S. Z., Lu, L.-F., & Rudensky, A. Y. (2012) · Annual Review of Immunology · doi:10.1146/annurev.immunol.25.022106.141623 · Cited by 2,866
Regulatory T Cell-Derived Interleukin-10 Limits Inflammation at Environmental Interfaces
Rubtsov, Y. P., Rasmussen, J. P., Chi, E. Y., Fontenot, J., Castelli, L., Ye, X., Treuting, P., Siewe, L., Roers, A., Henderson, W. R., et al. (2008) · Immunity · doi:10.1016/j.immuni.2008.02.017 · Cited by 1,586
Morita, R., Schmitt, N., Bentebibel, S.-E., Ranganathan, R., Bourdery, L., Zurawski, G., Foucat, E., Dullaers, M., Oh, S., Sabzghabaei, N., et al. (2011) · Immunity · doi:10.1016/j.immuni.2010.12.012 · Cited by 1,563
Follicular regulatory T cells expressing Foxp3 and Bcl-6 suppress germinal center reactions
Chung, Y., Tanaka, S., Chu, F., Nurieva, R. I., Martinez, G. J., Rawal, S., Wang, Y.-H., Lim, H., Reynolds, J. M., Zhou, X.-H., et al. (2011) · Nature Medicine · doi:10.1038/nm.2426 · Cited by 1,120
Autophagy Impairment Induces Premature Senescence in Primary Human Fibroblasts
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Cited by
Lo, B., Zhang, K., Lu, W., Zheng, L., Zhang, Q., Kanellopoulou, C., Zhang, Y., Liu, Z., Fritz, J. M., Marsh, R., et al. (2015) · Science · doi:10.1126/science.aaa1663 · Cited by 675
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects
Schwab, C., Gabrysch, A., Olbrich, P., Patiño, V., Warnatz, K., Wolff, D., Hoshino, A., Kobayashi, M., Imai, K., Takagi, M., et al. (2018) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2018.02.055 · Cited by 438
Self-citationThe extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency
Gámez-Díaz, L., August, D., Stepensky, P., Revel-Vilk, S., Seidel, M. G., Noriko, M., Morio, T., Worth, A. J. J., Blessing, J., Van de Veerdonk, F., et al. (2016) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2015.09.025 · Cited by 285
Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
Bogaert, D. J. A., Dullaers, M., Lambrecht, B. N., Vermaelen, K. Y., De Baere, E., & Haerynck, F. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103690 · Cited by 279
Targeting immune checkpoints in hematological malignancies
Salik, B., Smyth, M. J., & Nakamura, K. (2020) · Journal of Hematology & Oncology · doi:10.1186/s13045-020-00947-6 · Cited by 113
Metadata
- Authors
- Charbonnier, L.-M., Janssen, E., Chou, J., Ohsumi, T. K., Keles, S., Hsu, J. T., Massaad, M. J., Garcia-Lloret, M., Hanna-Wakim, R., Dbaibo, G., Alangari, A. A., Alsultan, A., Al-Zahrani, D., Geha, R. S., & Chatila, T. A.
- Venue
- Journal of Allergy and Clinical Immunology
- Publisher
- Elsevier BV
- Published
- 2015-01
- Volume
- 135
- Issue
- 1
- Pages
- 217-227.e9
- ISSN
- 0091-6749 (ISSN-L)
- OpenAlex
- W1996886022
- Cited by
- 244
- References
- 6
- FWCI
- 9.85
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Charbonnier, L.-M., Janssen, E., Chou, J., Ohsumi, T. K., Keles, S., Hsu, J. T., Massaad, M. J., Garcia-Lloret, M., Hanna-Wakim, R., Dbaibo, G., Alangari, A. A., Alsultan, A., Al-Zahrani, D., Geha, R. S., & Chatila, T. A. (2015). Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA. Journal of Allergy and Clinical Immunology. https://doi.org/10.1016/j.jaci.2014.10.019
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