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    Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity
    1
    1. Vibhor 14 Jun 2026
      c.1002C>A,p.N334K

      Case#: 2_Edwards_2019, F, 12 yo (report), African American ethnicity reported

      DiseaseAssertion: APDS

      FamilyInfo: NR

      CasePresentingHPOs: EBV + (HP:0430064)

      CaseHPOFreeText: NR

      CaseNotHPOs: CMV, Lymphoma (HP:0430087, HP:0002665)

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      GenotypingMethod: NR

      PreviouslyPublished: Yes PMID: 24165795

      Variant: PIK3CD c.1002C>A, p.N334K

      ClinVarID: 132806

      CAID: CA156204

      gnomAD: not found

      SupplementalData:

      DiseaseAssertion:APDS InheritancePattern:AutosomalDominant Mutation:Missense ClinVarID:132806 Gene:PIK3CD HGNC:8977 Zygosity:Heterozygous Ab Deficiencies VCEP
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