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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    CTLA4 Message Reflects Pathway Disruption in Monogenic Disorders and Under Therapeutic Blockade
    1
    1. Vibhor 01 Jul 2026
      Patient B.II.1

      Case#: Garcia-Perez_2019_B.II.1, male

      DiseaseAssertion: CTLA4 haploinsufficiency

      FamilyInfo: mother is an asymptomatic carrier

      CasePresentingHPOs: HP:0100651, HP:0000872, HP:0002242 (Type 1 diabetes, autoimmune thyroidosis, enteropathy)

      CaseHPOFreeText: none

      CaseNotHPOs: none

      CaseNotHPOFreeText: none

      CasePreviousTesting: none

      GenotypingMethod: Sanger sequencing

      PreviouslyPublished: not reported

      Variant: NM_005214.5(CTLA4):c.457G>A

      ClinVarID: 636389

      CAID: CA350138843

      gnomAD: not found

      SupplementalData: n/a

      Gene:CTLA4 HGNC:2505 InheritancePattern:AutosomalDominant DiseaseEntity:CHAI AlleleOrigin:Germline Zygosity:Heterozygous ClinVarID:636389 CAID:CA350138843 Enteropathy:Reported ClinicalStaus:Symptomatic Ab Deficiencies VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6532297/