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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Imlifidase Utilization in Glanzmann Thrombasthenia With Anti-GPIIb/IIIa and Anti-HLA Alloimmunization and Severe Platelet Refractoriness Following Hematopoietic Stem Cell Transplant
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    1. ClingenBaseline 26 Oct 2026
      Our patient

      Case#: 4 mo, Female

      DiseaseAssertion: GT

      CasePresentingHPOs: (HP:0001892) Abnormal bleeding; (HP:0000978) Bruising susceptibility

      PlateletAggregation: Severe platelet refractoriness. Pretransplant evaluation revealed normal platelet count. Day +9, the patient had undetectable platelet count. Bleeding-control strategies included the use of thrombopoietin receptor agonist, romiplostim, and low-rate continuous platelet transfusion. Imlifidase was well tolerated with no side effects.

      CaseHPOFreeText: Escherichia coli bacteremia.

      ProteinExpression: Platelet GP expression testing confirmed the absence of platelet GPIIb/IIIa expression. Day +12 confirmed the presence of anti-GPIIb/IIIa antibodies among others.

      Gene: ITGB3

      HGVS: NM_000212.3:c.1788del

      ClinVar:

      CAID: CA2262611500

      gnomAD: 0 https://gnomad.broadinstitute.org/variant/chr17-47299404-GC-G?dataset=gnomad_r4

      InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Frameshift Zygosity:Homozygous CAid:CA2262611500 ClinVarID:unregistered ProteinExpression:MinimalInformation PlatletAggregation:MinimalInformation Gene:ITGB3 inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    onlinelibrary.wiley.com/doi/10.1002/pbc.31412