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    APDS in a 3-year-old boy presenting with EBV viremia and hodgkin lymphoma associated with a novel germline heterozygous variant in PIK3CD and with characteristic immune phenotype but no upregulation of the T cell mTOR pathway
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    1. Vibhor 05 Jun 2026
      We present a case

      Case#: 3-year-old male

      DiseaseAssertion: Activated phosphoinositide 3-kinase delta syndrome (APDS)

      CasePresentingHPOs: HP:0034839, HP:0005425, HP:0020071, HP:0012189

      CaseHPOFreeText: We describe a 3-year-old patient with a novel variant in the PIK3CD gene (c.58G > A p.(Val20lle)) presenting with EBV viremia, Hodgkin lymphoma, upregulation T follicular helper cells and CD10 + B cells consistent with a phenotype of APDS in a 3-year-old boy.

      Variant: c.58G > A p.(Val20lle)

      CAID: 1359338

      Variant:ClinVarID:1359338 InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:APDS Ab Deficiencies VCEP
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    link.springer.com/article/10.1186/s13223-026-01014-4