TY - JOUR
T1 - Tip of the iceberg
T2 - A comprehensive review of liver disease in Inborn errors of immunity
AU - Sharma, Disha
AU - Ben Yakov, Gil
AU - Kapuria, Devika
AU - Viana Rodriguez, Gracia
AU - Gewirtz, Meital
AU - Haddad, James
AU - Kleiner, David E.
AU - Koh, Christopher
AU - Bergerson, Jenna R.E.
AU - Freeman, Alexandra F.
AU - Heller, Theo
N1 - Funding Information:
Supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institute of Allergy and Infectious Diseases (NIAID) and National Cancer Institute (NCI).
Funding Information:
Supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institute of Allergy and Infectious Diseases (NIAID) and National Cancer Institute (NCI). The authors thank Nancy Terry from the NIH library for helping them in their literature search for the review article. In memory of Hugo Rosen.
Publisher Copyright:
© 2022 American Association for the Study of Liver Diseases. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
PY - 2022/12/1
Y1 - 2022/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85129898293&partnerID=8YFLogxK
U2 - 10.1002/hep.32539
DO - 10.1002/hep.32539
M3 - Review article
C2 - 35466407
AN - SCOPUS:85129898293
SN - 0270-9139
VL - 76
SP - 1845
EP - 1861
JO - Hepatology
JF - Hepatology
IS - 6
ER -