Primary immunodeficiencies (PID) are a heterogeneous group of disorders characterized by an increased risk of infections and malignancies, but also by autoimmune and inflammatory complications. There is a wide spectrum of gastrointestinal pathology, causing considerable morbidity and mortality in PID, where both aetiology and effective therapy are under debate.
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency in adulthood, affecting 1 in 25 000 in Caucasians. These patients have a B-cell dysfunction that leads to hypogammaglobulinemia, including low Immunoglobulin A (IgA). In addition, a large proportion of CVID patients have clinical manifestations of non-resolving inflammation and autoimmunity in the gastrointestinal (GI) tract. The heterogeneity and unknown mechanism behind CVID enteropathy, and thereby the lack of effective treatment, is one of the key challenges in the field of CVID. There is a considerable burden of disease with a major negative impact on the quality of life, morbidity, and mortality. Therefore, it is of utmost importance to unveil new molecular pathways that have a major impact on the understanding of CVID enteropathy and inflammation. The most common genetic variants with a clinical picture resembling CVID and enteropathy are in the genes CTLA4, LRBA, or PIK3CD.
The link between gut inflammation in PID and immune dysregulation, GI infections, genetics, gut microbiota, and diet, is not clear. In the last decade, the interaction between gut microbiota and intestinal- and systemic inflammation has received much attention as a possible pathogenic mechanism in several autoimmune and immune-mediated disorders. However, there are only a few studies that have explored the role of gut microbiota in PID.
This Research topic will focus on the inflammation in the GI tract in PID, covering both the upper and lower GI tract inflammation, including the liver. The scope includes patients with CVID, monogenic PID, and IgA deficiency. It will cover articles regarding aetiology, microbiota, IgA deficiency and genetics, and its relationship to GI inflammation in PID. We welcome Original Research, Commentary, Reviews, and Minireview articles aimed to bring together the most recent advances regarding the understanding of the pathogenesis of gut inflammation in PID.
Topic Editor Dr. Helen Leavis received financial support from Takeda and Novartis. The other Topic Editors declare no competing interests with regard to the Research Topic subject.
Primary immunodeficiencies (PID) are a heterogeneous group of disorders characterized by an increased risk of infections and malignancies, but also by autoimmune and inflammatory complications. There is a wide spectrum of gastrointestinal pathology, causing considerable morbidity and mortality in PID, where both aetiology and effective therapy are under debate.
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency in adulthood, affecting 1 in 25 000 in Caucasians. These patients have a B-cell dysfunction that leads to hypogammaglobulinemia, including low Immunoglobulin A (IgA). In addition, a large proportion of CVID patients have clinical manifestations of non-resolving inflammation and autoimmunity in the gastrointestinal (GI) tract. The heterogeneity and unknown mechanism behind CVID enteropathy, and thereby the lack of effective treatment, is one of the key challenges in the field of CVID. There is a considerable burden of disease with a major negative impact on the quality of life, morbidity, and mortality. Therefore, it is of utmost importance to unveil new molecular pathways that have a major impact on the understanding of CVID enteropathy and inflammation. The most common genetic variants with a clinical picture resembling CVID and enteropathy are in the genes CTLA4, LRBA, or PIK3CD.
The link between gut inflammation in PID and immune dysregulation, GI infections, genetics, gut microbiota, and diet, is not clear. In the last decade, the interaction between gut microbiota and intestinal- and systemic inflammation has received much attention as a possible pathogenic mechanism in several autoimmune and immune-mediated disorders. However, there are only a few studies that have explored the role of gut microbiota in PID.
This Research topic will focus on the inflammation in the GI tract in PID, covering both the upper and lower GI tract inflammation, including the liver. The scope includes patients with CVID, monogenic PID, and IgA deficiency. It will cover articles regarding aetiology, microbiota, IgA deficiency and genetics, and its relationship to GI inflammation in PID. We welcome Original Research, Commentary, Reviews, and Minireview articles aimed to bring together the most recent advances regarding the understanding of the pathogenesis of gut inflammation in PID.
Topic Editor Dr. Helen Leavis received financial support from Takeda and Novartis. The other Topic Editors declare no competing interests with regard to the Research Topic subject.
