C0636 - Enteropathy in Primary Immunodeficiency Diseases: A Systematic Review of Cases

Howard Chung, MD¹, Beishi Zheng, MD², Bing Chen, MD³, Ao Wang, MD⁴, Xiao-Fei Kong, MD^4
1New York University School of Medicine, Brooklyn, NY; ²Woodhull Medical and Mental Health Center, Brooklyn, NY; ³New York University School of Medicine, New York, NY; ⁴Columbia University Irving Medical Center, New York, NY

Introduction: Inborn errors of immunity are a group of primary immunodeficiency disorders caused by over 400 genetic defects. Enteropathy has been common in PID patients, which presents with chronic diarrhea, malabsorption, growth delay, iron deficiency, and failure to thrive. This article systemically reviewed the clinical presentations, treatments, and genetic defects of enteropathy observed in PIDD.

Methods: We have reviewed published cases with the clinical diagnosis of both enteropathy and PIDD using three databases (Pubmed, Scopus, EMBASE). A total of 346 cases met our inclusion criteria.

Results: The most common enteropathy-associated PIDD is common variable immunodeficiency (32.4%), IPEX (21%), selective IgA deficiency (18.1%), and hypogammaglobulinemia (7.9%). Celiac disease (26.2%) is the most common enteropathy presentation in PIDD, followed by IPEX (20.7%), autoimmune enteropathy (6.4%), and CVID enteropathy (5.8%). Selective IgA deficiency and CD/Celiac like disease were also frequently reported. More than half of documented PIDD-related CD showed positive serology test results and histopathological findings. 88% of PIDD-related CD cases are responsive to a gluten-free diet. FOXP3 mutation (70) was the most common gene mutation in PIDD, followed by CTLA-4 (17), CD55 (8), NFKB1 (8), GoF-STAT1 (5), GoF-STAT3 (5) ,and C1-INH (4). CTLA-4 mutation was found related to CVID, hypogammaglobulinemia, and autoimmune enteropathy. NFKB1was found mainly linked to CVID. We observed frequent giardiasis (21), norovirus (3), CMV (4), Candidiasis (2), and histoplasmosis (2) infections causing enteropathy in PIDD. No significant difference in treatments of the enteropathy between PIDD and non-PIDD was noticed.

Discussion: Enteropathy can be common clinical presentations in IEIs. With early recognition of clinical manifestations and enteropathy-associated gene mutation, PIDD can be diagnosed and treated timely, preventing complications and mortalities.




Disclosures:


Howard Chung, MD¹, Beishi Zheng, MD², Bing Chen, MD³, Ao Wang, MD⁴, Xiao-Fei Kong, MD⁴. C0636 - Enteropathy in Primary Immunodeficiency Diseases: A Systematic Review of Cases, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.