Eosinophilic Gastrointestinal Disease in Patients with Primary Immunodeficiency

RATIONALE: Eosinophilic gastrointestinal disorders (EGID), including eosinophilic esophagitis (EoE) are complex inflammatory disorders of the mucosa. Reports have described EGID in primary immunodeficiency disease (PIDD) patients, including agammaglobulinemia, CVID and STAT3-deficient hyper-IgE syndrome (AD-HIES). Here we study the frequency and characteristics of patients with co-occurrence of EGID and PIDD in a large national database.

METHODS: We queried the U.S. Immunodeficiency Network Primary Immunodeficiency Diseases Registry (USIDNET.org) for all patient records including terms eosinophilic esophagitis, gastritis, enteritis or colitis.

RESULTS: 63 patient records met these criteria, 50 of whom had EoE alone and 13 of whom had other EGID. Patients had various PIDD. The most common were CVID (47.6%), AD-HIES (11%), and chronic granulomatous disease (9.5%), and combined immunodeficiencies including SCID (15.8%). Median age at presentation was 7 years (IQR 2-18.25, min 0, max 72.5) and 58.7% were male. Infectious complications across the cohort were varied, however roughly one-third of the cohort had experienced oral or esophageal thrush. It is unknown, however, if these candidal infections predated diagnosis of EoE or were potential complications of medical therapy for EoE. 5 patients had complication of esophageal stenosis/stricture and 5 had concurrent inflammatory bowel disease. 17.5% underwent stem cell transplant, and 23.8 % of patients’ transplant status was unrecorded.

CONCLUSIONS: EoE and other EGID were a complication in 1 in 70 patients within this cohort of PIDD patients, although referral and recruitment bias may affect this estimate. The overall frequency of EoE in the U.S. population is currently estimated at 1 in 2000.