Abstract
Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency (PID) in adulthood and is characterized by severe reduction of immunoglobulin serum levels and impaired antibody production in response to vaccines and pathogens. Beyond the susceptibility to infections, CVID encompasses a wide spectrum of clinical manifestations related to a complex immune dysregulation that also affects liver. Although about 50% CVID patients present persistently deranged liver function, burden, and nature of liver involvement have not been systematically investigated in most cohort studies published in the last decades. Therefore, the prevalence of liver disease in CVID widely varies depending on the study design and the sampling criteria. This review seeks to summarize the evidence about the most relevant causes of liver involvement in CVID, including nodular regenerative hyperplasia (NRH), infections and malignancies. We also describe the clinical features of liver disease in some monogenic forms of PID included in the clinical spectrum of CVID as ICOS, NFKB1, NFKB2, CTLA-4, PI3Kδ pathway, ADA2, and IL21-R genetic defects. Finally, we discuss the clinical applications of the various diagnostic tools and the possible therapeutic approaches for the management of liver involvement in the context of CVID.
Highlights
Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency (PID) in adult age and is characterized by marked hypogammaglobulinemia (IgG and IgA, with or without IgM), and impaired antibody production in response to vaccines and pathogens [1, 2]
Results of computed tomography scan (CT) and magnetic resonance imaging (MRI) scans revealed portal vein dilatation and collateral vessel formation in 50% CVID patients with nodular regenerative hyperplasia (NRH) described by Fuss et al [50], while abnormal liver imaging was present in 77% of CVID patients started to an active hepatology follow-up reported by a more recent United Kingdom cohort study [36]
We recently investigated liver involvement in a cohort of CVID adult patients by means of ultrasound based transient elastography (TE), finding that 33.8% patients presented increased liver stiffness values ranging from moderate fibrosis to cirrhosis [40]
Summary
Antonio Pecoraro1*, Ludovica Crescenzi, Gilda Varricchi, Giancarlo Marone and Giuseppe Spadaro. Beyond the susceptibility to infections, CVID encompasses a wide spectrum of clinical manifestations related to a complex immune dysregulation that affects liver. About 50% CVID patients present persistently deranged liver function, burden, and nature of liver involvement have not been systematically investigated in most cohort studies published in the last decades. The prevalence of liver disease in CVID widely varies depending on the study design and the sampling criteria. This review seeks to summarize the evidence about the most relevant causes of liver involvement in CVID, including nodular regenerative hyperplasia (NRH), infections and malignancies. We describe the clinical features of liver disease in some monogenic forms of PID included in the clinical spectrum of CVID as ICOS, NFKB1, NFKB2, CTLA-4, PI3Kδ pathway, ADA2, and IL21-R genetic defects.
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