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    Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity
    1
    1. Vibhor 14 Jun 2026
      c.1573G>Ap.E525K

      Case#: 3_Edwards_2019, F, 60 yo (report), white ethnicity reported

      DiseaseAssertion: APDS

      FamilyInfo: NR

      CasePresentingHPOs: EBV +, diffuse large B-cell lymphoma (HP:0430064, HP:0002665)

      CaseHPOFreeText: NR

      CaseNotHPOs: CMV, Lymphoma (HP:0430087)

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      GenotypingMethod: NR

      PreviouslyPublished: No

      Variant: PIK3CD c.1573G>A p.E525K

      ClinVarID: 132807

      CAID: n/a

      gnomAD: not found

      SupplementalData:

      InheritancePattern:AutosomalDominant DiseaseAssertion:APDS Mutation:Missense Gene:PIK3CD HGNC:8977 ClinVarID:132807 Zygosity:Heterozygous Ab Deficiencies VCEP
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