Chronic Diarrhea with Villous Blunting of the Small Intestine Under Capsule Endoscopy in Common Variable Immunodeficiency and X-Linked Agammaglobulinemia: A Case Series

Figures & data

Figure 1 Imaging of normal jejunum (a) and ileum (b) in healthy control under capsule endoscopy. (c) Capsule endoscopy showing mucosa of the jejunum in patient 1, which were congested with blunting of the intestinal villi. (d) CTE of the small intestine in patient 1 showed multiple, slightly enlarged lymph nodes in the peritoneal and mesenteric regions.

Figure 2 (a) Capsule endoscopy showing mucosa of the jejunum in patient 2, which were thinned out and the intestinal villi were blunting. (b) CTE of the intestine in patient 2 showed multiple enlarged lymph nodes in mesentery and colon dilation.

Figure 3 (a) Capsule endoscopy showing mucosa of the jejunum in patient 3, which were were congested and thinned out, with blunting of the intestinal villi. (b) CTE of the small intestine in patient 3 showed multiple, slightly enlarged lymph nodes in the peritoneal and mesenteric regions.

Table 1 Characteristics of 3 PIDs Patients with Chronic Diarrhea

	Patient 1	Patient 2	Patient 3
Gender	Female	Male	Male
Age at GI disease presentation (years)	41	20	27
Immunoglobulin serum levels	IgG 1.83g/L (normal range 7.51–15.6) IgA <0.067g/L (normal range 0.82–4.53) IgM 0.58 g/L (normal range 0.46–3.04)	IgG 1.34g/L IgA <0.2g/L IgM 0.05 g/L	IgG undetectable IgA undetectable IgM undetectable
Clinical manifestation	Watery diarrhea (10–20 times a day), recurrent skin manifestations, weight loss	Watery diarrhea (5–6 times a day), weight loss	Watery diarrhea (4–5 times a day), abdominal pain, weight loss
Age at PIDs diagnosis (years)	42	24	27
White blood cell count	10.22×10^9/L (normal range 3.5–9.5x10^9/L)	4.87×10^9/L	5.98×10^9/L
Globulin	15.6g/L (normal range 25–30 g/L)	8.1 g/L	17.3 g/L
B cell count	28/ul (normal range 80–616/ul)	53/ul	0
Switched memory B cell (%)	Not assessed	5.4%	Not assessed
CD3+ T cells	1506/ul (normal range 723–2737/ul)	1063/ul	1746/ul
CD4+ T cells	818/ul (normal range 404–1612/ul)	382/ul	485/ul
CD8+ T cells	692/ul (normal range 220–1129/ul)	633/ul	1037/ul
HLA DQ 2/8	Negative	Negative	Negative
Genetic analysis	CTLA-4 missense mutation c.392T>C, p.Val131Ala	Not diagnostic	Btk mutation nonsense c.1558C>T, p.Arg520*
Histopathological findings	Gastric antrum and duodenum: infiltration of neutrophils and lymphocytes, absence of plasma cells Terminal ileum: massive intraepithelial lymphocytes, villous atrophy	Terminal ileum: villous atrophy, prominent infiltration of lymphocytes and eosinophils, lack of mucosal plasma cells	Duodenum and terminal ileum: villous atrophy, lack of mucosal plasma cells, massive lymphocytic infiltration
Treatments	Glucocorticoid, enteral and parenteral nutrition, probiotics replenish, IVIg therapy, antibacterial therapy, vedolizumab	Regular IVIg therapy	Glucocorticoids, IVIg therapy, vedolizumab, antibacterial and antifungal therapy
Outcome	Death	Regular IVIg therapy continuance	Death

Note: *Represented termination codon.

Data Sharing Statement

The data underlying this article are available in the article.