A human immunodeficiency syndrome caused by mutations in CARMIL2
CARMIL2 (Rltpr) is involved in T-cell function. Here, the authors identify human CARMIL2-deficiency as an autosomal recessive primary immunodeficiency disorder characterized by EBV+smooth muscle tumours, CD28 co-signalling deficiency and impaired cytoskeletal dynamics.
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Nature Portfolio
2017
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oai:doaj.org-article:e9f075515e8e4545955a0e18ed4bdd762021-12-02T14:40:36ZA human immunodeficiency syndrome caused by mutations in CARMIL210.1038/ncomms142092041-1723https://doaj.org/article/e9f075515e8e4545955a0e18ed4bdd762017-01-01T00:00:00Zhttps://doi.org/10.1038/ncomms14209https://doaj.org/toc/2041-1723CARMIL2 (Rltpr) is involved in T-cell function. Here, the authors identify human CARMIL2-deficiency as an autosomal recessive primary immunodeficiency disorder characterized by EBV+smooth muscle tumours, CD28 co-signalling deficiency and impaired cytoskeletal dynamics.T. SchoberT. MaggM. LaschingerM. RohlfsN. D. LinharesJ. PuchalkaT. WeisserK. FehlnerJ. MautnerC. WalzK. HusseinG. JaegerB. KammerI. SchmidM. BahiaS. D. PenaU. BehrendsB. H. BelohradskyC. KleinF. HauckNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-13 (2017) |
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DOAJ |
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DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q T. Schober T. Magg M. Laschinger M. Rohlfs N. D. Linhares J. Puchalka T. Weisser K. Fehlner J. Mautner C. Walz K. Hussein G. Jaeger B. Kammer I. Schmid M. Bahia S. D. Pena U. Behrends B. H. Belohradsky C. Klein F. Hauck A human immunodeficiency syndrome caused by mutations in CARMIL2 |
| description |
CARMIL2 (Rltpr) is involved in T-cell function. Here, the authors identify human CARMIL2-deficiency as an autosomal recessive primary immunodeficiency disorder characterized by EBV+smooth muscle tumours, CD28 co-signalling deficiency and impaired cytoskeletal dynamics. |
| format |
article |
| author |
T. Schober T. Magg M. Laschinger M. Rohlfs N. D. Linhares J. Puchalka T. Weisser K. Fehlner J. Mautner C. Walz K. Hussein G. Jaeger B. Kammer I. Schmid M. Bahia S. D. Pena U. Behrends B. H. Belohradsky C. Klein F. Hauck |
| author_facet |
T. Schober T. Magg M. Laschinger M. Rohlfs N. D. Linhares J. Puchalka T. Weisser K. Fehlner J. Mautner C. Walz K. Hussein G. Jaeger B. Kammer I. Schmid M. Bahia S. D. Pena U. Behrends B. H. Belohradsky C. Klein F. Hauck |
| author_sort |
T. Schober |
| title |
A human immunodeficiency syndrome caused by mutations in CARMIL2 |
| title_short |
A human immunodeficiency syndrome caused by mutations in CARMIL2 |
| title_full |
A human immunodeficiency syndrome caused by mutations in CARMIL2 |
| title_fullStr |
A human immunodeficiency syndrome caused by mutations in CARMIL2 |
| title_full_unstemmed |
A human immunodeficiency syndrome caused by mutations in CARMIL2 |
| title_sort |
human immunodeficiency syndrome caused by mutations in carmil2 |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/e9f075515e8e4545955a0e18ed4bdd76 |
| work_keys_str_mv |
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