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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
      P17

      Case#: P17

      DiseaseAssertion: APDS1

      FamilyInfo: Chinese

      CaseHPOFreeText: Upper respiratory infection, Recurrent respiratory tract infections (1.5 y), bronchiectasis (7 y), otitis media, hearing loss, Lymphadenomegaly, splenomegaly, hepatomegaly, ILD, Kidney stones, oblique inguinal hernia, failure to thrive, mastoiditis, anti-infection prophylaxis, IVIG, glucocorticoid, mTOR inhibitor.

      CasePreviousTesting: WES

      Variant: E525G

      HGVS: NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly)

      ClinVar: 582515

      CAID: CA338303813

      gnomAD: absent from gnomad v4.1.0

      Gene: PIK3CD InheritancePattern:AutosomalDominant Zygosity:Heterozygous DiseaseEntity:APDS CAID: CA338303813 ClinVar: 582515 ClinicalStatus:Symptomatic PreviousTesting Ab Deficiencies VCEP
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    pmc.ncbi.nlm.nih.gov/articles/PMC11026262/