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    Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity
    1
    1. Vibhor 14 Jun 2026
      c.371G>A,p.G124D

      Case#: 1_Edwards_2019, F, 40 yo (report), white ethnicity reported

      DiseaseAssertion: APDS

      FamilyInfo: NR

      CasePresentingHPOs: EBV + (HP:0430064)

      CaseHPOFreeText: NR

      CaseNotHPOs: CMV, Lymphoma

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      GenotypingMethod: NR

      PreviouslyPublished: Yes PMID: 28414062

      Variant: PIK3CD c.371G>A, p.G124D

      ClinVarID: 2733822

      CAID: CA338300460

      gnomAD: not found

      SupplementalData:

      Mutation:Missense InheritancePattern:AutosomalDominant ClinVarID:2733822 Gene:PIK3CD HGNC:8977 DiseaseAssertion:APDS Zygosity:Heterozygous Ab Deficiencies VCEP
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