Article
A human immunodeficiency syndrome caused by mutations in CARMIL2.
Nature communications - 23 Jan 2017
Schober T, Magg T, Laschinger M, Rohlfs M, Linhares N D, Puchalka J, Weisser T, Fehlner K, Mautner J, Walz C, Hussein K, Jaeger G, Kammer B, Schmid I, Bahia M, Pena S D, Behrends U, Belohradsky B H, Klein C, Hauck F
Abstract excerpt
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+ disseminated smooth muscle tumours that carry two homozygous loss-of-function mutations in the CARMIL2 (RLTPR) gene encoding the capping protein regulator and myosin 1 linker 2. These patients lack...
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