Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects

Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation syndrome in human subjects. We sought to characterize the penetrance, clinical features, and best treatment options in 133 CTLA4 mutation carriers....

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Published in:	Journal of allergy and clinical immunology Vol. 142; no. 6; pp. 1932 - 1946
Main Authors:	Schwab, Charlotte, Gabrysch, Annemarie, Olbrich, Peter, Patiño, Virginia, Warnatz, Klaus, Wolff, Daniel, Hoshino, Akihiro, Kobayashi, Masao, Imai, Kohsuke, Takagi, Masatoshi, Dybedal, Ingunn, Haddock, Jamanda A., Sansom, David M., Lucena, Jose M., Seidl, Maximilian, Schmitt-Graeff, Annette, Reiser, Veronika, Emmerich, Florian, Frede, Natalie, Bulashevska, Alla, Salzer, Ulrich, Schubert, Desirée, Hayakawa, Seiichi, Okada, Satoshi, Kanariou, Maria, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Sumnik, Zdenek, Sediva, Anna, Slatter, Mary, Arkwright, Peter D., Cant, Andrew, Lorenz, Hanns-Martin, Giese, Thomas, Lougaris, Vassilios, Plebani, Alessandro, Price, Christina, Sullivan, Kathleen E., Moutschen, Michel, Litzman, Jiri, Freiberger, Tomas, van de Veerdonk, Frank L., Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Speckmann, Carsten, Ehl, Stephan, Leichtner, Alan, Blumberg, Richard, Franke, Andre, Snapper, Scott, Zeissig, Sebastian, Cunningham-Rundles, Charlotte, Giulino-Roth, Lisa, Elemento, Olivier, Dückers, Gregor, Niehues, Tim, Fronkova, Eva, Kanderová, Veronika, Platt, Craig D., Chou, Janet, Chatila, Talal A., Geha, Raif, McDermott, Elizabeth, Bunn, Su, Kurzai, Monika, Schulz, Ansgar, Alsina, Laia, Casals, Ferran, Deyà-Martinez, Angela, Hambleton, Sophie, Kanegane, Hirokazu, Taskén, Kjetil, Neth, Olaf, Grimbacher, Bodo
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01.12.2018 Mosby
Subjects:	abatacept Adolescent Adult Aged Aged, 80 and over autoimmunity Child common variable immunodeficiency CTLA-4 Antigen - genetics Cytotoxic T-lymphocyte antigen 4 Female hematopoietic stem cell transplantation Human health sciences Humans hypogammaglobulinemia immune dysregulation Immunologic Deficiency Syndromes - diagnostic imaging Immunologic Deficiency Syndromes - genetics Immunologic Deficiency Syndromes - therapy Immunologie & maladie infectieuse Immunology & infectious disease Male Middle Aged Mutation Phenotype primary immunodeficiency Sciences de la santé humaine sirolimus Young Adult abatacept Treg hypogammaglobulinemia common variable immunodeficiency CMV immune dysregulation ALPS GLILD CVID sIL-2R autoimmunity APC alloHSCT sirolimus primary immunodeficiency hematopoietic stem cell transplantation IPEX mTOR CTLA-4 Cytotoxic T-lymphocyte antigen 4 NK
ISSN:	0091-6749, 1097-6825, 1097-6825
Online Access:	Get full text
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