- A human immunodeficiency syndrome caused by mutations in CARMIL2.
A human immunodeficiency syndrome caused by mutations in CARMIL2.
Nature communications (2017-01-24)
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
PMID28112205
ABSTRACT
Human T-cell function is dependent on T-cell antigen receptor (TCR) and co-signalling as evidenced by immunodeficiencies affecting TCR-dependent signalling pathways. Here, we show four human patients with EBV