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    Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency
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    1. Vibhor 02 Jul 2026
      Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency

      PMID: 32562209

      Gene: CTLA4

      HGNC: 2505

      Disease: autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

      MONDO: 0014493

      InheritancePattern: autosomal dominant

      Prevalence: <1 in 1,000,000

      Penetrance: The penetrance of the phenotype among carriers of pathogenic variants is incomplete.

      General ClinGen Gene:TEK HGNC:2505 Ab Deficiencies VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC8996434/