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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
      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
    2. 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
    3. 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
    4. 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/