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. 2023 Aug 30:14:1209570.
doi: 10.3389/fimmu.2023.1209570. eCollection 2023.

Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort

David A Sanchez  1 , Karina Rotella  1 , Crhistian Toribio  2 , Matthew Hernandez  1 , Charlotte Cunningham-Rundles  1
Affiliations

Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort

David A Sanchez et al. Front Immunol. .

Abstract

Common Variable Immunodeficiency (CVID), a complex primary immunodeficiency syndrome defined by defective B cell responses to infection and vaccination, has heterogeneous clinical manifestations. Gastrointestinal (GI) complications in CVID, both infectious and non-infectious, can cause significant impairment leading to malabsorption and frank malnutrition. In order to better characterize the spectrum of GI disease associated with CVID, we describe 114 patients with GI disease (15.6%) from our 728 patient single center CVID cohort. Norovirus, Giardia and Cytomegalovirus were the most frequently isolated infectious pathogens. CVID enteropathy was the most encountered GI diagnosis based on endoscopy, with only a minority of patients having Crohn's disease (6.1%) or ulcerative colitis/proctitis (4.5%). Concurrent autoimmunity (30.7%), lung disease (18.4%) and malignancy (8.7%) were also present in significant proportion of subjects. Lastly, 16 of 47 (34%) who underwent whole exome sequencing demonstrated a culprit gene defect associated with CVID.

Keywords: CVID; enteropathy; gastrointestinal; infectious; noninfectious.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The handling editor KW declared a past co-authorship with the author CC-R.

Figures

Figure 1
Figure 1
Immunoglobulin Levels in CVID with GI Disease.
Figure 2
Figure 2
Distribution of GI Disease in CVID.
Figure 3
Figure 3
Graphical Representation of Non-GI associated Complications in patients with CVID GI disease.
See this image and copyright information in PMC

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