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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.J.* ; Behrends, U. ; Belohradsky, B.H.* ; Klein, C.* ; Hauck, F.*

A human immunodeficiency syndrome caused by mutations in CARMIL2.

Nat. Commun. 8:14209 (2017)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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 regulatory T cells without evidence of organ-specific autoimmunity, and have defective CD28 co-signalling associated with impaired T-cell activation, differentiation and function, as well as perturbed cytoskeletal organization associated with T-cell polarity and migration disorders. Human CARMIL2-deficiency is therefore an autosomal recessive primary immunodeficiency disorder associated with defective CD28-mediated TCR co-signalling and impaired cytoskeletal dynamics.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Smooth-muscle Tumors; T-cell-activation; Infantile Myofibromatosis; Hemophagocytic Syndromes; Cd28 Costimulation; Microtubules; Deficiency; Expression; Disorders; Migration
Language english
Publication Year 2017
HGF-reported in Year 2017
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Journal Nature Communications
Quellenangaben Volume: 8, Issue: , Pages: , Article Number: 14209 Supplement: ,
Publisher Nature Publishing Group
Publishing Place London
Reviewing status Peer reviewed
Institute(s) Research Unit Gene Vector (AGV)
POF-Topic(s) 30203 - Molecular Targets and Therapies
Research field(s) Immune Response and Infection
PSP Element(s) G-501500-001
PubMed ID 28112205
DOI 10.1038/ncomms14209
WOS ID WOS:000392406200001
Scopus ID 85010402424
Erfassungsdatum 2017-03-09
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