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    Acquired Antibodies to αIIbβ3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond
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    1. ClingenBaseline 23 Oct 2026
      5.

      Case5: Male, age or ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Severe bleeding

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: Minimal information, not specific enough

      CasePreviousTesting: Sanger sequencing identified disease-causing variants in 18 out of 20 patients (Probands 6 and 14 excluded) with istoantibodies to αIIbβ3. The mutations were evenly distributed between ITGB3 and ITGA2B.

      Gene: ITGB3

      Variant: NM_000212.2:c.892C>G (p.Gln298Ter)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA400025097

      gnomAD: N/A

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:NoZygosityAssertion CAiD:CA400025097 PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:MinimalInformation inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S0887796318300373