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  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene
    1
    1. Vibhor 30 Jun 2026
      13

      Case#: Wang_2022_P13, M, 8 y.o. (diagnosis), origin in

      DiseaseAssertion: APDS

      FamilyInfo:

      CasePresentingHPOs:<br /> decreased T cells (HP:0005403) decreased B cells (HP:0010976) decreased CD4/CD8 (HP:0033222) increased IgM (HP:0003496) decreased CD19 increased transitional B cells (HP:0030381) decreased naive b cells (HP:0030372) increased plasmablasts (HP:0032128) decreased CD4 (HP:0032218) decreased CD4 naive (HP:0410378) decresed CD8 naive (HP:0410377) EBV viremia (HP:0020072) lymphadenopathy (HP:0002716) enteropathy (HP:0002242) thrombocytopenia (HP:0001873)

      CaseHPOFreeText: increased CD4 CM, increased CD4 EM, increased CD8, increased CD8, CM increased CD8 EM

      CaseNotHPOs: abnormal wbc count (HP:0011893) abnormal IgA (HP:0410240) abnormal IgG (HP:0410242) abnormal NK cells (HP:0012176) abnormal memory B cells (HP:0030373)

      CaseNotHPOFreeText: abnormal CD3, abnormal CD8 temra, abnormal DNT

      CasePreviousTesting:

      GenotypingMethod: unclear- possibly WES or NGS

      PreviouslyPublished:

      Variant: heterozygous NM_005026.5:c.3074A>G (p.E1025G)

      ClinVarID: 422410

      CAID: CA16617216

      gnomAD: Not present in gnomAD

      SupplementalData: Table S1

      Lymphopenia:Reported Cytopenia:Reported GastrointestinalInvolvement:Reported InheritancePattern:AutosomalDominant ClinVarID:422410 CAID:CA16617216 Zygosity:Heterozygous ClinicalStatus:Symptomatic SupplementalData DiseaseEntity:APDS Gene:PIK3CD HGNC:8977 SevereInfection:Reported Ab Deficiencies VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC9253290/
  3. link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
    Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome
    1
    1. Vibhor 29 Jun 2026
      1 patient had heterogeneous E1025G

      Case#: Wang_2018_P13, M, 2 y.o. (diagnosis), origin in China

      DiseaseAssertion: APDS

      FamilyInfo:

      CasePresentingHPOs: RRTI (HP:0002205) Pneumonia (HP:0002090) Tonsillitis (HP:0011110) Diarrhea (HP:0002014) Lymphadenopathy (HP:0002716) Hepatomegaly (HP:0002240) Splenomegaly (HP:0001744) thrombocytopenia (HP:0001873) mycotic stomatitis (HP:0010280) elevated IgM (HP:0003496)

      HP:0002205, HP:0002090, HP:0011110, HP:0002014, HP:0002716, HP:0002240, HP:0001744, HP:0001873, HP:0003496, HP:0010280

      CaseHPOFreeText: EBV DNA, CMV-IgM positive, fungus positive, decreased antibodies to Hepatitis-B

      CaseNotHPOs: abnormal IgG (HP:0410242), abnormal IgA (HP:0410240)

      CaseNotHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: WES + Sanger

      PreviouslyPublished:

      Variant: heterozygous NM_005026.5:c.3074A>G (p.E1025G)

      ClinVarID: 422410

      CAID: CA16617216

      gnomAD: Not present in gnomAD

      SupplementalData: Phenotypic info in table S4

      InheritancePattern:AutosomalDominant Zygosity:Heterozygous DiseaseEntity:APDS Gene:PIK3CD HGNC:8977 ClinVarID:422410 CAID:CA16617216 Thrombocytopenia GastroIntestinalInvolvement Lymphoproliferation AbnormalImmunoglobulins Ab Deficiencies VCEP
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    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s10875-018-0568-x
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Abnormal B-Cell Maturation in the Bone Marrow of Patients with Germline Mutations in PIK3CD
    1
    1. Vibhor 29 Jun 2026
      One of the patients has a novel mutation (E1025G) that has not been previously reported

      Case#: Dulau_Florea_2018_10, M, 7 y.o. (report), origin in ?

      DiseaseAssertion: APDS

      FamilyInfo:

      CasePresentingHPOs: EBV viremia (HP:0020072), Varicella after live vaccine (HP:0032170), sinopulmonary infection (HP:0005425), lymphadenopathy (HP:0002716), nodular lymph hyperplasia in the intestine (HP:0011956), splenomegaly (HP:0001744),<br /> elevated IgM (HP:0003496), decreased IgG (HP:0004315), decreased IgA (HP:0002720), Granulocytic hyperplasia (HP:0012138),

      HP:0020072, HP:0032170, HP:0005425, HP:0002716, HP:0011956, HP:0001744, HP:0003496, HP:0004315, HP:0002720, HP:0012138

      CaseHPOFreeText: abnormal IgE, decreased T4/T8 ratio, DAT autoantibodis present, 95% cellularity BM morphology, B cell expansion observed

      CaseNotHPOs: lymphoma (HP:0002665)

      CaseNotHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: unknown

      PreviouslyPublished:

      Variant: heterozygous NM_005026.5:c.3061G>A (p.E1025G)

      ClinVarID: 422410

      CAID: CA16617216

      gnomAD: Not present in gnomAD

      SupplementalData: Phenotypic info in supplemental table E2

      Gene:PIK3CD HGNC:8977 DiseaseEntity:APDS Zygosity:Heterozygous ClinicalStatus:Symptomatic InheritancePattern:AutosomalDominant ClinVarID:422410 CAID:CA16617216 SevereInfection RespiratoryInvolvement Lymphoproliferation AbnormalImmunoglobulins SupplementalData Ab Deficiencies VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC5342918/