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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A New Variant in CTLA4 Highlights the Heterogeneous Phenotype of CTLA4 Haploinsufficiency
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    1. Vibhor 06 Jun 2026
      18-year-old female patien

      Case#: III.7, an 18-year-old female patient

      DiseaseAssertion: immune thrombopenia, autoimmune hemolytic anemia, and Evans syndrome with infections early-onset herpes zoster and chronic Epstein-Barr virus

      FamilyInfo: Table 1

      CasePresentingHPOs: HP:0001433, HP:0002716

      CaseHPOFreeText: severe necrotic dermohypodermitis of left leg caused by Pseudomonas aeruginosa, hypogammaglobulinemia

      Variant: c.379T >G variant in CTLA4

      GenotypingMethod: high-throughput sequencing

      CAID: CA350138665

      Gene:CTLA4 HGNC:2505 InheritancePattern:AutosomalDominant AlleleOrigin:Germline Zygosity:Heterozygous CAID:CA350138665 ClinicalStatus:Symptomatic DiseaseEntity:Evanssyndrome Lymphoproliferation:Reported FamilyInfo Ab Deficiencies VCEP
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    pmc.ncbi.nlm.nih.gov/articles/PMC12605463/