Immune thrombocytopenia as the first symptom of primary immunodeficiency with immune dysregulation: a clinical case report and literature review

Primary immunodeficiencies constitute a large group of genetically determined disorders characterized by the impairment of mechanisms involved in the immune response. Syndromes of immune dysregulation are a group of primary immunodeficiencies that are characterized by frequent autoimmune manifestations, including immune cytopenia. CTLA4 haploinsufficiency with autoimmune infiltration is a remarkable example of immune dysregulation disorders. Here, we describe a case of CTLA4 haploinsufficiency that manifested with immune thrombocytopenia. We also review the current knowledge of etiopathogenesis, clinical manifestations and treatment of CTLA4 haploinsufficiency with autoimmune infiltration. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.