Nature Communications (Jan 2017)
A human immunodeficiency syndrome caused by mutations in CARMIL2
- 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
Affiliations
- T. Schober
- Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)
- T. Magg
- Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität (LMU)
- M. Laschinger
- Department of Surgery, 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
- Department of Surgery, Technische Universität München (TUM)
- K. Fehlner
- Department of Surgery, 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
- Department of Diagnostic Virology, 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
- Department of Pediatric Gastroenterology, 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)
- DOI
- https://doi.org/10.1038/ncomms14209
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 13
Abstract
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.
