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    Abnormal B-Cell Maturation in the Bone Marrow of Patients with Germline Mutations in PIK3CD
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    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/