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.

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Nature Publishing Group 2017-01-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/ncomms14209

Internet

https://doi.org/10.1038/ncomms14209

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