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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity
    4
    1. Vibhor 07 Jun 2026
      P1

      Case#: P1

      DiseaseAssertion: APDS1

      FamilyInfo: Chinese

      CaseHPOFreeText:

      CasePreviousTesting: WES

      Variant: E1021K

      HGVS: NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)

      ClinVar: 88675

      CAID: CA145460

      gnomAD: https://gnomad.broadinstitute.org/variant/1-9726972-G-A?dataset=gnomad_r4

      Gene:PIK3CD InheritancePattern:AutosomalDominant DiseaseEntity:APDS AlleleOrigin:Germline Zygosity:Heterozygous CAID: CA145460 ClinVar: 88675 ClinicalStatus:Symptomatic PreviousTesting Ab Deficiencies VCEP
    2. Vibhor 07 Jun 2026
      P2

      Case#: P2

      DiseaseAssertion: APDS1

      FamilyInfo: Chinese

      CaseHPOFreeText: Upper respiratory infection, Recurrent respiratory tract infections (1 m), pulmonary artery hypertension, bronchiectasis (16 y), Lymphadenomegaly, splenomegaly, hepatomegaly, Thrombocytopenia, Pericardial effusion, kidney injury, hypoalbuminemia, failure to thrive, anti-infection prophylaxis, IVIG, glucocorticoid, mTOR inhibitor.

      CasePreviousTesting: WES

      Variant: E1021K

      HGVS: NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)

      ClinVar: 88675

      CAID: CA145460

      gnomAD: https://gnomad.broadinstitute.org/variant/1-9726972-G-A?dataset=gnomad_r4

      Gene: PIK3CD InheritancePattern:AutosomalDominant Zygosity:Heterozygous DiseaseEntity:APDS CAID: CA145460 ClinVar: 88675 ClinicalStatus:Symptomatic PreviousTesting Ab Deficiencies VCEP
    3. Vibhor 07 Jun 2026
      P3

      Case#: P3

      DiseaseAssertion: APDS1

      FamilyInfo: Chinese

      CaseHPOFreeText: Pneumonia, Recurrent respiratory tract infections (6 m), bronchiectasis (7 y), Lymphadenomegaly, splenomegaly, hepatomegaly, Pericardial effusion, warts, proteinuria, hypoalbuminemia, intracranial hypertension, convulsion, failure to thrive, nasosinusitis, mastoiditis, brain atrophy, anti-infection prophylaxis, IVIG, glucocorticoid, mTOR inhibitor.

      CasePreviousTesting: WES

      Variant: E1021K

      HGVS: NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)

      ClinVar: 88675

      CAID: CA145460

      gnomAD: https://gnomad.broadinstitute.org/variant/1-9726972-G-A?dataset=gnomad_r4

      CAID: CA145460 ClinVar: 88675 Gene:PIK3CD Zygosity:Heterozygous InheritancePattern:AutosomalDominant DiseaseEntity:APDS ClinicalStatus:Symptomatic PreviousTesting AlleleOrigin:Germline Ab Deficiencies VCEP
    4. Vibhor 07 Jun 2026
      P4

      Case#: P4

      DiseaseAssertion: APDS1

      FamilyInfo: Chinese

      CaseHPOFreeText: Splenomegaly, Recurrent respiratory tract infections (9 y), Lymphadenomegaly, splenomegaly, SLE, lupus nephritis, AIHA, Flat warts, urinary tract infection, failure to thrive, anti-infection prophylaxis, IVIG, glucocorticoid, mTOR inhibitor.

      CasePreviousTesting: WES

      Variant: E1021K

      HGVS: NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)

      ClinVar: 88675

      CAID: CA145460

      gnomAD: https://gnomad.broadinstitute.org/variant/1-9726972-G-A?dataset=gnomad_r4

      ClinicalStatus:Symptomatic CAID: CA145460 ClinVar: 88675 Gene: PIK3CD InheritancePattern:AutosomalDominant Zygosity:Heterozygous PreviousTesting Ab Deficiencies VCEP
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    pmc.ncbi.nlm.nih.gov/articles/PMC11026262/