Primary Humoral Immune Deficiencies: Overlooked Mimickers of Chronic Immune-Mediated Gastrointestinal Diseases in Adults

Abstract

In recent years, the incidence of immune-mediated gastrointestinal disorders, including celiac disease (CeD) and inflammatory bowel disease (IBD), is increasingly growing worldwide. This generates a need to elucidate the conditions that may compromise the diagnosis and treatment of such gastrointestinal disorders. It is well established that primary immunodeficiencies (PIDs) exhibit gastrointestinal manifestations and mimic other diseases, including CeD and IBD. PIDs are often considered pediatric ailments, whereas between 25 and 45% of PIDs are diagnosed in adults. The most common PIDs in adults are the selective immunoglobulin A deficiency (SIgAD) and the common variable immunodeficiency (CVID). A trend to autoimmunity occurs, while gastrointestinal disorders are common in both diseases. Besides, the occurrence of CeD and IBD in SIgAD/CVID patients is significantly higher than in the general population. However, some differences concerning diagnostics and management between enteropathy/colitis in PIDs, as compared to idiopathic forms of CeD/IBD, have been described. There is an ongoing discussion whether CeD and IBD in CVID patients should be considered a true CeD and IBD or just CeD-like and IBD-like diseases. This review addresses the current state of the art of the most common primary immunodeficiencies in adults and co-occurring CeD and IBD.

Diagnostic and Predictive Value of Immune-Related Genes in Crohn’s Disease

“…CD is an immune-mediated disorder characterized by chronic inflammation in the gastrointestinal tract. The exact etiology of CD remains largely unknown, but genetic and environmental factors are believed to be the main contributors that trigger inflammatory processes in the intestinal mucosa (3,4). To date, no curative medical approach is available for CD (5); therefore, exploring the role of immune cells and the related cytokines is crucial for the development of effective therapeutic strategies for patients with CD.…”

Primary Immunodeficiency Diseases in Costa Rican Adults. A Cross-Sectional Study

“…In adults, PID should be considered in presence of recurrent or persistent infections of unusual severity or rapid progression, affecting multiple sites or being caused by opportunistic or unusual pathogens, leukopenia, history of parental consanguinity and positive family anamnesis [14]. However, other ndings that should guide the diagnosis are more than one pneumonic episode or one or more serious infections in the past, frequent use of antibiotics and suboptimal response to treatment, non-surgical absence of adenoids, recurrent skin, soft tissue and deep organs abscesses, recurrent oral and genital ulcers, recurrent eczema, diffuse presence of warts or molluscum contagiosum, non-infectious granulomas, idiopathic bronchiectasis, persistent lymphopenia or neutropenia, idiopathic hypereosinophilia, IgE higher than 2000 IU/mL, autoimmune or allergic diseases, chronic diarrhea, characteristic facies, skeletal abnormalities, neurological symptoms and hearing loss [14,15]12.…”

Review article: Diagnosis of coeliac disease: a perspective on current and future approaches

“…In contrast to uniform improvement with steroid therapy, gluten withdrawal improves enteropathy in only a minority of CVID patients 146 . Trial GFD should be reserved for only those CVID patients with HLA‐DQ genotype associated with CD, and subsequent response confirmed by improvement in intestinal histology after 1–2 years 147 . Absence of IgA‐secreting plasma cells is a hallmark feature of enteropathy associated with SIgAD and CVID 143 …”