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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
    1
    1. Vibhor 07 Jun 2026
      P10

      Case#: P10

      DiseaseAssertion: APDS1

      FamilyInfo: Chinese

      CaseHPOFreeText: Purpura, Recurrent respiratory tract infections, bronchiectasis (9 y), Chronic diarrhea, colitis, ileitis, gastritis, Lymphadenomegaly, splenomegaly, hepatomegaly, ITP, Mastoiditis, anti-infection prophylaxis, IVIG, glucocorticoid, mTOR inhibitor.

      CasePreviousTesting: WES

      Variant: E1025G

      HGVS: NM_005026.5(PIK3CD):c.3074A>G (p.Glu1025Gly)

      ClinVar: 422410

      CAID: CA16617216

      gnomAD: absent from gnomad v4.1.0

      Gene: PIK3CD InheritancePattern:AutosomalDominant Zygosity:Heterozygous DiseaseEntity:APDS AlleleOrigin:Germline CAID: CA16617216 ClinVar: 422410 ClinicalStatus:Symptomatic PreviousTesting Ab Deficiencies VCEP
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    pmc.ncbi.nlm.nih.gov/articles/PMC11026262/