Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity

Disha Sharma, Gil Ben Yakov, Devika Kapuria, Gracia Viana Rodriguez, Meital Gewirtz, James Haddad, David E. Kleiner, Christopher Koh, Jenna R.E. Bergerson, Alexandra F. Freeman, Theo Heller

Research output: Contribution to journalReview articlepeer-review

3 Scopus citations


Inborn errors of immunity (IEIs) consist of numerous rare, inherited defects of the immune system that affect about 500,000 people in the United States. As advancements in diagnosis through genetic testing and treatment with targeted immunotherapy and bone marrow transplant emerge, increasing numbers of patients survive into adulthood posing fresh clinical challenges. A large spectrum of hepatobiliary diseases now present in those with immunodeficiency diseases, leading to morbidity and mortality in this population. Awareness of these hepatobiliary diseases has lagged the improved management of the underlying disorders, leading to missed opportunities to improve clinical outcomes. This review article provides a detailed description of specific liver diseases occurring in various inborn errors of immunity. A generalized approach to diagnosis and management of hepatic complications is provided, and collaboration with hepatologists, immunologists, and pathologists is emphasized as a requirement for optimizing management and outcomes.

Original languageEnglish
Pages (from-to)1845-1861
Number of pages17
Issue number6
StatePublished - 1 Dec 2022
Externally publishedYes

ASJC Scopus subject areas

  • Hepatology


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