A human immunodeficiency syndrome caused by mutations in CARMIL2

Thomas 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 () and F. Hauck
Additional contact information
T. Magg: Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)
M. Laschinger: Technische Universität München (TUM)
M. Rohlfs: Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)
N. D. Linhares: Laboratory of Clinical Genomics, Federal University of Minas Gerais
J. Puchalka: Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)
T. Weisser: Technische Universität München (TUM)
K. Fehlner: Technische Universität München (TUM)
J. Mautner: Research Unit Gene Vectors, Helmholtz Zentrum München (HMGU)–German Research Center for Environmental Health
C. Walz: Institute of Pathology, Ludwig-Maximilians-Universität (LMU)
K. Hussein: Institute of Pathology, Hannover Medical School (MHH)
G. Jaeger: Max von Pettenkofer-Institute, Ludwig-Maximilians-Universität (LMU)
B. Kammer: Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)
I. Schmid: Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)
M. Bahia: Federal University of Minas Gerais
S. D. Pena: Laboratory of Clinical Genomics, Federal University of Minas Gerais
U. Behrends: Research Unit Gene Vectors, Helmholtz Zentrum München (HMGU)–German Research Center for Environmental Health
B. H. Belohradsky: Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)
C. Klein: Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)
F. Hauck: Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)

Nature Communications, 2017, vol. 8, issue 1, 1-13

Abstract: 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+ 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.

Date: 2017
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/ncomms14209 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_ncomms14209

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms14209

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().