Case Report
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Endosc. May 16, 2025; 17(5): 101618
Published online May 16, 2025. doi: 10.4253/wjge.v17.i5.101618
Diverse phenotypic manifestations of small intestinal mucosa in non-infectious common variable immunodeficiency bowel disease: A case report
Tian He, Min-Min Fan, Peng-Qiong Zhang, Wen Zhang, Dong Fan, Liu-Suo Du, Ming Tang, Ping Wan, Zheng-Ji Song
Tian He, Min-Min Fan, Peng-Qiong Zhang, Wen Zhang, Dong Fan, Liu-Suo Du, Ping Wan, Zheng-Ji Song, Department of Gastroenterology, The First People's Hospital of Yunnan Province, Kunming 650032, Yunnan Province, China
Peng-Qiong Zhang, Kunming Science and Technology University, Kunming 650500, Yunnan Province, China
Wen Zhang, Yunnan Provincial Key Laboratory of Clinical Virology, Yunnan Provincial Digestive Endoscopy Clinical Medical Center, Kunming 650500, Yunnan Province, China
Ming Tang, Department of Pathology, The First People's Hospital of Yunnan Province, Kunming 650000, Yunnan Province, China
Co-first authors: Tian He and Min-Min Fan.
Co-corresponding authors: Wen Zhang and Zheng-Ji Song.
Author contributions: He T and Fan MM contribute equally to this study as co-first authors; Zhang W and Song ZJ contribute equally to this study as co-corresponding authors; Tian He, Fan MM and Zhang PQ contributed to manuscript writing and editing, and data collection; Zhang W contributed to data analysis and manuscript-revision; Wan P and Song ZJ contributed to conceptualization and fund acquisition; all authors have read and approved the final manuscript.
Supported by National Natural Science Foundation of China, No. 82360120; Ten Thousand Doctor Plan in Yunnan Province, No. YNWR-MY-2018-020; and Yunnan Provincial Key Laboratory of Clinical Virology, No. 202205AG070053-07.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Zheng-Ji Song, Department of Gastroenterology, The First People's Hospital of Yunnan Province, No. 157 Jinbi Road, Xishan District, Kunming 650032, Yunnan Province, China. song4715@163.com
Received: September 20, 2024
Revised: January 17, 2025
Accepted: April 11, 2025
Published online: May 16, 2025
Processing time: 233 Days and 13.2 Hours
Abstract
BACKGROUND

Common variable immunodeficiency (CVID) is a primary antibody immunodeficiency disorder characterized by diminished IgG levels. Despite ongoing research, the precise pathogenesis of CVID remains unclear. Genetic factors account for only 10%-20% of cases, with an estimated incidence of 1 in 10000 to 1 in 100000, affecting individuals across all age groups.

CASE SUMMARY

We report the case of a 32-year-old man with CVID who presented with a chief complaint of “recurrent diarrhea and significant weight loss over the past 2 years”. Laboratory tests on admission showed fat droplets in stool, while other parameters were within normal ranges. Gastroscopy revealed a smooth gastric mucosa without bile retention or signs of Helicobacter pylori infection; however, the mucosa of the descending segment of the duodenum appeared rough. Further evaluation of the small intestine using computed tomography indicated no abnormalities. Finally, the whole-small bowel double-balloon enteroscopy (DBE) was performed, which revealed various phenotypic changes in the small intestinal mucosa. The patient was diagnosed with CVID, which improved after immunoglobulin therapy, with favorable follow-up outcomes.

CONCLUSION

Non-infectious enteropathy in CVID is rare. Therefore, DBE is essential for diagnosing small intestinal involvement in such cases.

Keywords: Diverse phenotypic manifestations; Common variant immunodeficiency disease; Double balloon-assisted enteroscopy; Inflammatory bowel disease; IgG; Case report

Core Tip: We report a case of non-infectious common variable immunodeficiency (CVID) patient associated bowel disease with non-specific clinical manifestations, which is characterized by B-cell dysfunction and reduced levels of serum IgG. The disease is rare and the etiology and pathogenesis remain unknown, making it difficult to diagnose, thus resulting in high mortality. Whole small intestinal double balloon enteroscopy is helpful for early diagnosis and reveals the involvement of the whole small intestinal mucosa. This case emphasizes that timely diagnosis, effective intervention and follow-up management are essential to improve the outcome of CVID patients.