دورية أكاديمية
A human immunodeficiency syndrome caused by mutations in CARMIL2
| العنوان: | A human immunodeficiency syndrome caused by mutations in CARMIL2 |
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| المؤلفون: | Schober, T., Magg, T., Laschinger, M., Rohlfs, M., Linhares, N. D., Puchalka, J., Weisser, T., Fehlner, K., Mautner, J., Walz, C., Hussein, K., Jäger, G., Kammer, B., Schmid, I., Bahia, M., Pena, S. D., Behrends, U., Belohradsky, B. H., Klein, C., Hauck, F. |
| المصدر: | Nature Communications |
| بيانات النشر: | Ludwig-Maximilians-Universität München |
| سنة النشر: | 2017 |
| المجموعة: | Open Access LMU (Ludwig-Maximilians-University Munich) |
| مصطلحات موضوعية: | Medizin, ddc:610 |
| الوصف: | Human T-cell function is dependent on T-cell antigen receptor (TCR) and co-signalling as evidenced by immunodeficiencies affecting TCR-dependent signalling pathways. Here, we show four human patients with EBV+ disseminated smooth muscle tumours that carry two homozygous loss-of-function mutations in the CARMIL2 (RLTPR) gene encoding the capping protein regulator and myosin 1 linker 2. These patients lack regulatory T cells without evidence of organ-specific autoimmunity, and have defective CD28 co-signalling associated with impaired T-cell activation, differentiation and function, as well as perturbed cytoskeletal organization associated with T-cell polarity and migration disorders. Human CARMIL2-deficiency is therefore an autosomal recessive primary immunodeficiency disorder associated with defective CD28-mediated TCR co-signalling and impaired cytoskeletal dynamics. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | Schober, T.; Magg, T.; Laschinger, M.; Rohlfs, M.; Linhares, N. D.; Puchalka, J.; Weisser, T.; Fehlner, K.; Mautner, J.; Walz, C.; Hussein, K.; Jäger, G.; Kammer, B.; Schmid, I.; Bahia, M.; Pena, S. D.; Behrends, U.; Belohradsky, B. H.; Klein, C.; Hauck, F. (2017): A human immunodeficiency syndrome caused by mutations in CARMIL2. In: Nature Communications, Vol. 8, 14209 [PDF, 5MB]; https://epub.ub.uni-muenchen.de/51112/1/ncomms14209.pdfTest; http://nbn-resolving.de/urn:nbn:de:bvb:19-epub-51112-2Test; https://epub.ub.uni-muenchen.de/51112Test/ |
| DOI: | 10.1038/ncomms14209 |
| الإتاحة: | https://doi.org/10.1038/ncomms14209Test https://epub.ub.uni-muenchen.de/51112/1/ncomms14209.pdfTest https://epub.ub.uni-muenchen.de/51112Test/ http://nbn-resolving.de/urn:nbn:de:bvb:19-epub-51112-2Test |
| رقم الانضمام: | edsbas.AC13A95F |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/ncomms14209 |
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