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    Genomic characterization of lymphomas in patients with inborn errors of immunity
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    1. Vibhor 29 Jun 2026

      Case#: Ye_2022_PL13, female, 1 yr (onset), Caucasian ancestry reported

      DiseaseAssertion: APDS

      FamilyInfo:

      CasePresentingHPOs: elevated WBCs (HP:0001974) decreased lymphocytes (HP:0001888) decreased NK cell percentage (HP:0040218) lymphoma (HP:0002665)

      CaseHPOFreeText: WBCs (15.5 10^9/L) lymphocytes (0.894 10^9/L) NK cell percentage (7%) marginal cell B-cell lymphoma

      CaseNotHPOs: abnormal immunoglobulin levels (HP:0010701)

      CaseNotHPOFreeText: abnormal B-cell percentage abnormal CD3+ percentage abnormal CD4+ percentage abnormal CD8+ percentage

      CasePreviousTesting:

      GenotypingMethod: WES from blood sample. WES of tumor also performed to identify somatic variation.

      PreviouslyPublished: no

      Variant: c.3061G>A, p.E1021K

      ClinVarID: 88675

      CAID:

      gnomAD: NR

      SupplementalData: S2 provides more information on the lymphoma.

      ClinVarID:88675 Lympoma DiseaseEntity:APDS InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense Lymphopenia ClinicalStatus:Symptomatic Gene:PIK3CD HGNC:8977 Ab Deficiencies VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC9631701/