CTLA4 haploinsufficiency results in a wide range of clinical manifestations

Takeaway

  • The impact of Cytotoxic T-lymphocyte antigen-4 (CTLA4) haploinsufficiency is wide reaching and clinical manifestations vary significantly from autoimmune and neurologic disorders, to infections and lymphoproliferation.

Why this matters

    Identification of the different phenotypes of CTLA4 haploinsufficiency will allow us to tailor targeted immunotherapies to the patient, thus giving them the best possible outcomes.