Familial hepatopulmonary syndrome in common variable immunodeficiency.
S N Holmes1, A Condliffe, W Griffiths
1Department of Clinical Immunology, Addenbrooke's Hospital, Hills Road, Box 109, Cambridge, CB2 0QQ, UK, sophienholmes@gmail.com.
Journal of Clinical Immunology
|February 25, 2015
Summary
Common Variable Immunodeficiency (CVID) in identical twins led to liver disease and hepatopulmonary syndrome (HPS). This genetic link suggests CVID may predispose individuals to HPS and liver complications.
Area of Science:
- Immunology
- Genetics
- Hepatology
Background:
- Common Variable Immunodeficiency (CVID) is a primary antibody deficiency with diverse complications.
- CVID patients are susceptible to infections, cancers, and inflammatory conditions.
Observation:
- This report details monozygotic twin brothers diagnosed with CVID.
- Both twins developed unexplained liver disease.
- Subsequently, they were diagnosed with hepatopulmonary syndrome (HPS).
Findings:
- This is the second documented instance of hepatopulmonary syndrome (HPS) associated with Common Variable Immunodeficiency (CVID).
- The simultaneous occurrence in identical twins strongly suggests a genetic predisposition.
Implications:
- The findings highlight a potential genetic link between CVID and the development of hepatopulmonary syndrome.
- This association warrants further investigation into the pathogenesis of CVID-related liver and lung complications.
- Understanding this genetic basis may inform future diagnostic and therapeutic strategies for CVID patients.
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