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  2. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity
    3
    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
    2. 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
    3. 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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