Autoimmune lymphoproliferative syndrome 5 is an autosomal dominant disorder caused by mutations of the CTLA4 gene.
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Waterhouse P et al. (1995) Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4.
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Kuehn HS et al. (2014) Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.
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Schubert D et al. (2014) Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
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