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.
| Main Authors: | , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2017-01-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/ncomms14209 |
| _version_ | 1818683044381327360 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-17T10:28:29Z |
| format | Article |
| id | doaj.art-e9f075515e8e4545955a0e18ed4bdd76 |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-17T10:28:29Z |
| publishDate | 2017-01-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-e9f075515e8e4545955a0e18ed4bdd762022-12-21T21:52:36ZengNature PortfolioNature Communications2041-17232017-01-018111310.1038/ncomms14209A human immunodeficiency syndrome caused by mutations in CARMIL2T. Schober0T. Magg1M. Laschinger2M. Rohlfs3N. D. Linhares4J. Puchalka5T. Weisser6K. Fehlner7J. Mautner8C. Walz9K. Hussein10G. Jaeger11B. Kammer12I. Schmid13M. Bahia14S. D. Pena15U. Behrends16B. H. Belohradsky17C. Klein18F. Hauck19Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)Department of Surgery, Technische Universität München (TUM)Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)Laboratory of Clinical Genomics, Federal University of Minas GeraisDr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)Department of Surgery, Technische Universität München (TUM)Department of Surgery, Technische Universität München (TUM)Research Unit Gene Vectors, Helmholtz Zentrum München (HMGU)–German Research Center for Environmental HealthInstitute of Pathology, Ludwig-Maximilians-Universität (LMU)Institute of Pathology, Hannover Medical School (MHH)Department of Diagnostic Virology, Max von Pettenkofer-Institute, Ludwig-Maximilians-Universität (LMU)Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)Department of Pediatric Gastroenterology, Federal University of Minas GeraisLaboratory of Clinical Genomics, Federal University of Minas GeraisResearch Unit Gene Vectors, Helmholtz Zentrum München (HMGU)–German Research Center for Environmental HealthDr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)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.https://doi.org/10.1038/ncomms14209 |
| spellingShingle | 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 Nature Communications |
| title | 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_short | A human immunodeficiency syndrome caused by mutations in CARMIL2 |
| title_sort | human immunodeficiency syndrome caused by mutations in carmil2 |
| url | https://doi.org/10.1038/ncomms14209 |
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