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 |
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| Format: | Article
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| Language: | English |
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| Published: |
Nature Portfolio
2017-01-01
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| Series: | Nature Communications
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| Online Access: | https://doi.org/10.1038/ncomms14209
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