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Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers

Egg, David ; Schwab, Charlotte ; Gabrysch, Annemarie ; Arkwright, Peter D. ; Cheesman, Edmund ; Giulino-Roth, Lisa ; Neth, Olaf ; Snapper, Scott ; Okada, Satoshi ; Moutschen, Michel ; Delvenne, Philippe ; Pecher, Ann-Christin ; Wolff, Daniel ; Kim, Yae-Jean ; Seneviratne, Suranjith ; Kim, Kyoung-Mee ; Kang, Ji-Man ; Ojaimi, Samar ; McLean, Catriona ; Warnatz, Klaus ; Seidl, Maximilian ; Grimbacher, Bodo



Abstract

Background: Cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) is a negative immune regulator on the surface of T cells. In humans, heterozygous germline mutations in CTLA4 can cause an immune dysregulation syndrome. The phenotype comprises a broad spectrum of autoinflammatory, autoimmune, and immunodeficient features. An increased frequency of malignancies in primary immunodeficiencies is ...

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