A human immunodeficiency syndrome caused by mutations in CARMIL2

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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Detalles Bibliográficos
Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Science
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Acceso en línea:https://doaj.org/article/e9f075515e8e4545955a0e18ed4bdd76
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https://doaj.org/article/e9f075515e8e4545955a0e18ed4bdd76

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