Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
About this item
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Author / Creator
Sun Kuehn, Hye , Ouyang, Weiming , Lo, Bernice , Deenick, Elissa K. , Niemela, Julie E. , Avery, Danielle T. , Schickel, Jean-Nicolas , Tran, Dat Q. , Stoddard, Jennifer , Zhang, Yu , Frucht, David M. , Dumitriu, Bogdan , Scheinberg, Phillip , Folio, Les R. , Frein, Cathleen A. , Price, Susan , Koh, Christopher , Heller, Theo , Seroogy, Christine M. , Huttenlocher, Anna , Rao, V. Koneti , Su, Helen C. , Kleiner, David , Notarangelo, Luigi D. , Rampertaap, Yajesh , Olivier, Kenneth N. , McElwee, Joshua , Hughes, Jason , Pittaluga, Stefania , Oliveira, Joao B. , Meffre, Eric , Fleisher, Thomas A. , Holland, Steven M. , Lenardo, Michael J. , Tangye, Stuart G. and Uzel, Gulbu
Publisher
United States: American Association for the Advancement of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Association for the Advancement of Science
Subjects
More information
Scope and Contents
Contents
Cytotoxic T lymphocyte antigen–4 (CTLA-4) is an inhibitory receptor found on immune cells. The consequences of mutations in CTLA4 in humans are unknown. We identified germline heterozygous mutations in CTLA4 in subjects with severe immune dysregulation from four unrelated families. Whereas Ctla4 heterozygous mice have no obvious phenotype, human CT...
Alternative Titles
Full title
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
Authors, Artists and Contributors
Author / Creator
Ouyang, Weiming
Lo, Bernice
Deenick, Elissa K.
Niemela, Julie E.
Avery, Danielle T.
Schickel, Jean-Nicolas
Tran, Dat Q.
Stoddard, Jennifer
Zhang, Yu
Frucht, David M.
Dumitriu, Bogdan
Scheinberg, Phillip
Folio, Les R.
Frein, Cathleen A.
Price, Susan
Koh, Christopher
Heller, Theo
Seroogy, Christine M.
Huttenlocher, Anna
Rao, V. Koneti
Su, Helen C.
Kleiner, David
Notarangelo, Luigi D.
Rampertaap, Yajesh
Olivier, Kenneth N.
McElwee, Joshua
Hughes, Jason
Pittaluga, Stefania
Oliveira, Joao B.
Meffre, Eric
Fleisher, Thomas A.
Holland, Steven M.
Lenardo, Michael J.
Tangye, Stuart G.
Uzel, Gulbu
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4371526
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4371526
Other Identifiers
ISSN
0036-8075,1095-9203
E-ISSN
1095-9203
DOI
10.1126/science.1255904
