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...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.展开更多
基金Supported by National Natural Science Foundation of China,No.82360120Ten Thousand Doctor Plan in Yunnan Province,No.YNWRMY-2018-020Yunnan Provincial Key Laboratory of Clinical Virology,No.202205AG070053-07.
文摘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.
