Article
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
The Journal of allergy and clinical immunology - 1 Dec 2018
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
Abstract excerpt
BACKGROUND: 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. OBJECTIVE: We sought to characterize the penetrance, clinical features, and best treatment options in 133 CTLA4 mutation carriers. METHODS: Genetics, clinical features, laboratory values, and outcomes of treatment options...
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