CTLA-4 deficiency is a widely known cause of immunodeficiency and autoimmunity, determining an immune dysregulation syndrome. We here present the case of a young woman with a severe inflammatory bowel disease (IBD) secondary to CTLA4 deficiency, successfully treated with abatacept.
We describe the case of a 41-year-old woman affected by CVID-associated IBD determining chronic diarrhea and severe malabsorption. Her medical history included psoriatic arthritis, idiopathic thrombocytopenic purpura and multifactorial anemia. Replacement therapy was based on subcutaneous Ig (Hizentra ®, CSL Behring) at 8 g/week. The first time she came to our attention, her weight was 33 kg and she was in parenteral nutrition by a central venous catheter (CVC). She was firstly treated with steroids and anti-TNF alfa (adalimumab), with initial partial clinical response. Anyway, six months after we had to definitely stop adalimumab because of several serious infective complications (including CVC infection). Considering the comorbidities and the suboptimal therapeutic response, we decided to asses a genetic test in order to find out an underlying monogenic cause of immunodeficiency.
The genetic examination documented a CTLA4 gene heterozygous mutation, with consequent deficiency. Thus we decided to administer her abatacept, a CTLA4-immunoglobulin fusion protein, at the dose of 125 mg/week subcutaneously in association with oral topical steroid (budesonide). At one year follow-up the patient has gained weight and diarrhea is in remission.
CTLA-4 mutations determine an immune dysregulation syndrome potentially associated to severe enteropathy. Abatacept can be effective in inducing and maintaining remission in these patients.