Abstract
Common Variable Immunodeficiency (CVID) comprises a heterogeneous group of primary antibody deficiencies which lead to a range of complications, including infectious, neoplastic and inflammatory disorders. This report describes monozygotic twin brothers with CVID who developed cryptogenic liver disease and subsequently hepatopulmonary syndrome (HPS). This is the second report of the association of HPS and CVID. Its occurrence in two identical twins implicates a genetic basis.
References
Malamut G, Ziol M, Suarez F, Beaugrand M, Viallard JF, Lascaux AS, et al. Nodular regenerative hyperplasia: the main liver disease in patients with primary hypogammaglobulinaemia and hepatic abnormalities. J Hepatol. 2008;48(1):74–82.
Ward C, Lucas M, Piris J, Collier J, Chapel H. Abnormal liver function in common variable immunodeficiency disorders due to nodular regenerative hyperplasia. Clin Exp Immunol. 2008;153(3):331–7.
Fuss IJ, Friend J, Yang Z, He JP, Hooda L, Boyer J, et al. Nodular regenerative hyperplasia in common variable immunodeficiency. J Clin Immunol. 2013;33:748–58.
Naalsund A, Lund MB, Mynarek G, Aakhus S, Boberg KM, Nordoy I. A man in his 60s with severe respiratory failure. Tidsskr Nor Laegeforen. 2011;131(17):1654–7.
Clinical diagnostic criteria for common variable immunodeficiency. In: Clinical Diagnostic Criteria for Primary Immunodeficiencies. European Society for Immunodeficiencies (ESID). http://esid.org/Working-Parties/Clinical/Resources/Diagnostic-criteria-for-PID2#Q3. Accessed 23 January 2015.
Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999;92:34–7.
Cunningham-Rundles C. The many faces of common variable immunodeficiency. Hematology. American Society of Hematology Education Program. 2012: 301–305.
Gathmann B, Mahlaoui N, Gerard L, Oksenhendler E, Grimbacher B. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014;134(1):116–26.
Kari ER, Steven MK, Michael JK, Robert Jr SB, James FT, et al. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. Gastroenterology. 2010;139:130–9.
Grace JA, Angus PW. Hepatopulmonary syndrome: update on recent advances in pathophysiology, investigation, and treatment. J Gastroenterol Hepatol. 2013;28:213–9.
Acknowledgments
This work was supported by the National Institute of Health Research of the UK, via the Cambridge Biomedical Research Centre.
Conflict of Interest
The authors declare that they have no conflict of interest.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Holmes, S.N., Condliffe, A., Griffiths, W. et al. Familial Hepatopulmonary Syndrome in Common Variable Immunodeficiency. J Clin Immunol 35, 302–304 (2015). https://doi.org/10.1007/s10875-015-0142-8
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10875-015-0142-8