100243 - Liver Transplantation in a Patient with Primary Immunodeficiency and Cirrhosis: A Clinical Evaluation

Background

    Inborn errors of immunity (IEIs) are characterized by recurrent, treatment-refractory infections, but immune dysregulation, malignancy, and autoimmunity are also common. Certain IEIs are strongly associated with hepatic involvement. Common Variable Immunodeficiency (CVID) may present with liver disorders such as nodular regenerative hyperplasia. Liver transplantation (LT) is an established treatment for liver cirrhosis (LC) and acute liver failure. However, LT in patients with concomitant IEI remains controversial due to the increased risk of post-transplant complications. We report a patient with cryptogenic LC who was subsequently diagnosed with IEI and underwent LT.

Case Presentation

    A 26-year-old woman was diagnosed with cryptogenic LC four years earlier after abnormal liver function tests during pregnancy. During follow-up, she developed recurrent, treatment-refractory sinopulmonary infections and was referred for immunological evaluation. Investigations showed panhypogammaglobulinemia, absent vaccine responses, inverted CD4/CD8 ratio, and markedly reduced CD19⁺ and CD27⁺ B cells. After exclusion of secondary causes, CVID was diagnosed and intravenous immunoglobulin (IVIG) therapy was initiated. Despite treatment, LC progressed with grade 3 esophageal varices, massive splenomegaly, refractory ascites, and pancytopenia. LT was planned after a multidisciplinary evaluation and a detailed risk assessment. She underwent successful LT four months ago. One month post-discharge, she developed a fever and was diagnosed with a liver abscess. Intravenous antibiotics and percutaneous drainage were performed. She is currently stable under IVIG replacement, immunosuppressive therapy, and antibiotic prophylaxis. 

Discussion and Conclusion

    Susceptibility to infections is a hallmark of IEI, and post-transplant immunosuppressive therapy may further increase this risk. In addition, the immunological impact of LT and the potential risk of graft-versus-host disease should be carefully considered in this population. The success of LT in patients with IEI depends on comprehensive pre-transplant immunological assessment, strict post-transplant monitoring, and early management of infections and disease-related complications. A multidisciplinary approach is essential to optimize outcomes, minimize complications, and improve long-term prognosis in this high-risk group.