Gastrointestinal Involvement in Primary Antibody Deficiencies
Primary antibody deficiencies (PADs) are the most frequent group of inborn errors of immunity. Impaired B-cell development, reduced production of immunoglobulins (mainly IgG and IgA), and specific antibodies resulting in recurrent infections are their hallmarks. Infections typically affect the respi...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-01-01
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| Series: | Gastrointestinal Disorders |
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| Online Access: | https://www.mdpi.com/2624-5647/5/1/6 |
| _version_ | 1827749613408354304 |
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| author | Tomas Milota Jitka Smetanova Iveta Klojdova |
| author_facet | Tomas Milota Jitka Smetanova Iveta Klojdova |
| author_sort | Tomas Milota |
| collection | DOAJ |
| description | Primary antibody deficiencies (PADs) are the most frequent group of inborn errors of immunity. Impaired B-cell development, reduced production of immunoglobulins (mainly IgG and IgA), and specific antibodies resulting in recurrent infections are their hallmarks. Infections typically affect the respiratory tract; however, gastrointestinal involvement is also common. These include infection with <i>Helicobacter pylori</i>, <i>Salmonella</i>, <i>Campylobacter</i> species, <i>Giardia</i>, and noroviruses. Impaired IgA production also contributes to dysbiosis and thereby an increase in abundance of species with proinflammatory properties, resulting in immune system dysregulation. Dysregulation of the immune system results in a broad spectrum of non-infectious manifestations, including autoimmune, lymphoproliferative, and granulomatous complications. Additionally, it increases the risk of malignancy, which may be present in more than half of patients with PADs. Higher prevalence is often seen in monogenic causes, and gastrointestinal involvement may clinically mimic various conditions including inflammatory bowel diseases and celiac disease but possess different immunological features and response to standard treatment, which make diagnosis and therapy challenging. The spectrum of malignancies includes gastric cancer and lymphoma. Thus, non-infectious manifestations significantly affect mortality and morbidity. In this overview, we provide a comprehensive insight into the epidemiology, genetic background, pathophysiology, and clinical manifestations of infectious and non-infectious complications. |
| first_indexed | 2024-03-11T06:31:04Z |
| format | Article |
| id | doaj.art-716f3617811e4e4d85e301003321f88b |
| institution | Directory Open Access Journal |
| issn | 2624-5647 |
| language | English |
| last_indexed | 2024-03-11T06:31:04Z |
| publishDate | 2023-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Gastrointestinal Disorders |
| spelling | doaj.art-716f3617811e4e4d85e301003321f88b2023-11-17T11:14:10ZengMDPI AGGastrointestinal Disorders2624-56472023-01-0151526710.3390/gidisord5010006Gastrointestinal Involvement in Primary Antibody DeficienciesTomas Milota0Jitka Smetanova1Iveta Klojdova2Department of Immunology, Second Faculty of Medicine Charles University and Motol University Hospital, 15006 Prague, Czech RepublicDepartment of Immunology, Second Faculty of Medicine Charles University and Motol University Hospital, 15006 Prague, Czech RepublicDRIFT-FOOD, Faculty of Agrobiology, Food and Natural Resources, Czech University of Life Sciences, 15006 Prague, Czech RepublicPrimary antibody deficiencies (PADs) are the most frequent group of inborn errors of immunity. Impaired B-cell development, reduced production of immunoglobulins (mainly IgG and IgA), and specific antibodies resulting in recurrent infections are their hallmarks. Infections typically affect the respiratory tract; however, gastrointestinal involvement is also common. These include infection with <i>Helicobacter pylori</i>, <i>Salmonella</i>, <i>Campylobacter</i> species, <i>Giardia</i>, and noroviruses. Impaired IgA production also contributes to dysbiosis and thereby an increase in abundance of species with proinflammatory properties, resulting in immune system dysregulation. Dysregulation of the immune system results in a broad spectrum of non-infectious manifestations, including autoimmune, lymphoproliferative, and granulomatous complications. Additionally, it increases the risk of malignancy, which may be present in more than half of patients with PADs. Higher prevalence is often seen in monogenic causes, and gastrointestinal involvement may clinically mimic various conditions including inflammatory bowel diseases and celiac disease but possess different immunological features and response to standard treatment, which make diagnosis and therapy challenging. The spectrum of malignancies includes gastric cancer and lymphoma. Thus, non-infectious manifestations significantly affect mortality and morbidity. In this overview, we provide a comprehensive insight into the epidemiology, genetic background, pathophysiology, and clinical manifestations of infectious and non-infectious complications.https://www.mdpi.com/2624-5647/5/1/6selective immunoglobulin A deficiencycommon variable immunodeficiencyX-linked agammaglobulinemiagastrointestinal tractmicrobiomeceliac disease |
| spellingShingle | Tomas Milota Jitka Smetanova Iveta Klojdova Gastrointestinal Involvement in Primary Antibody Deficiencies Gastrointestinal Disorders selective immunoglobulin A deficiency common variable immunodeficiency X-linked agammaglobulinemia gastrointestinal tract microbiome celiac disease |
| title | Gastrointestinal Involvement in Primary Antibody Deficiencies |
| title_full | Gastrointestinal Involvement in Primary Antibody Deficiencies |
| title_fullStr | Gastrointestinal Involvement in Primary Antibody Deficiencies |
| title_full_unstemmed | Gastrointestinal Involvement in Primary Antibody Deficiencies |
| title_short | Gastrointestinal Involvement in Primary Antibody Deficiencies |
| title_sort | gastrointestinal involvement in primary antibody deficiencies |
| topic | selective immunoglobulin A deficiency common variable immunodeficiency X-linked agammaglobulinemia gastrointestinal tract microbiome celiac disease |
| url | https://www.mdpi.com/2624-5647/5/1/6 |
| work_keys_str_mv | AT tomasmilota gastrointestinalinvolvementinprimaryantibodydeficiencies AT jitkasmetanova gastrointestinalinvolvementinprimaryantibodydeficiencies AT ivetaklojdova gastrointestinalinvolvementinprimaryantibodydeficiencies |