Inborn errors of immunity (primary immunodeficiencies)
Abstract Primary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function. IEIs can be broadly classified as disorders of adaptive immunity (e.g., combin...
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| Format: | Article |
| Language: | English |
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BMC
2025-01-01
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| Series: | Allergy, Asthma & Clinical Immunology |
| Online Access: | https://doi.org/10.1186/s13223-024-00938-z |
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| author | Vy H. D. Kim Julia E. M. Upton Beata Derfalvi Kyla J. Hildebrand Christine McCusker |
| author_facet | Vy H. D. Kim Julia E. M. Upton Beata Derfalvi Kyla J. Hildebrand Christine McCusker |
| author_sort | Vy H. D. Kim |
| collection | DOAJ |
| description | Abstract Primary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function. IEIs can be broadly classified as disorders of adaptive immunity (e.g., combined or humoral immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Although the clinical manifestations of IEIs are highly variable, traditionally many disorders involve an increased susceptibility to infection. Research in recent years has underscored how IEI can present with features other than infection such as: severe atopy, autoimmunity, autoinflammation, lymphoproliferation, and/or malignancy resulting from immune dysregulation. Early consultation with a clinical immunologist is essential, as timely diagnosis and treatment are imperative for preventing significant disease-associated morbidity and mortality. The treatment of IEIs is complex and generally requires both supportive and definitive strategies, including but not limited to, immunoglobulin replacement therapy, antibiotic prophylaxis, immune response modifiers, and hematopoietic stem cell transplantation. This article provides an overview of the major categories of IEIs and strategies for the appropriate diagnosis and management of these disorders. |
| format | Article |
| id | doaj-art-c7da4fd77aaf4ce5ae2a3b92aade5d22 |
| institution | Kabale University |
| issn | 1710-1492 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Allergy, Asthma & Clinical Immunology |
| spelling | doaj-art-c7da4fd77aaf4ce5ae2a3b92aade5d222025-01-12T12:28:05ZengBMCAllergy, Asthma & Clinical Immunology1710-14922025-01-0120S311710.1186/s13223-024-00938-zInborn errors of immunity (primary immunodeficiencies)Vy H. D. Kim0Julia E. M. Upton1Beata Derfalvi2Kyla J. Hildebrand3Christine McCusker4Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children, Temerty School of Medicine, University of TorontoDivision of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children, Temerty School of Medicine, University of TorontoDivision of Immunology, IWK Health Centre, Department of Pediatrics, Dalhousie UniversityDivision of Immunology, Department of Pediatrics, BC Children’s HospitalDivision of Allergy and Clinical Immunology, Department of Pediatrics, Montreal Children’s Hospital, McGill University Health CentreAbstract Primary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function. IEIs can be broadly classified as disorders of adaptive immunity (e.g., combined or humoral immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Although the clinical manifestations of IEIs are highly variable, traditionally many disorders involve an increased susceptibility to infection. Research in recent years has underscored how IEI can present with features other than infection such as: severe atopy, autoimmunity, autoinflammation, lymphoproliferation, and/or malignancy resulting from immune dysregulation. Early consultation with a clinical immunologist is essential, as timely diagnosis and treatment are imperative for preventing significant disease-associated morbidity and mortality. The treatment of IEIs is complex and generally requires both supportive and definitive strategies, including but not limited to, immunoglobulin replacement therapy, antibiotic prophylaxis, immune response modifiers, and hematopoietic stem cell transplantation. This article provides an overview of the major categories of IEIs and strategies for the appropriate diagnosis and management of these disorders.https://doi.org/10.1186/s13223-024-00938-z |
| spellingShingle | Vy H. D. Kim Julia E. M. Upton Beata Derfalvi Kyla J. Hildebrand Christine McCusker Inborn errors of immunity (primary immunodeficiencies) Allergy, Asthma & Clinical Immunology |
| title | Inborn errors of immunity (primary immunodeficiencies) |
| title_full | Inborn errors of immunity (primary immunodeficiencies) |
| title_fullStr | Inborn errors of immunity (primary immunodeficiencies) |
| title_full_unstemmed | Inborn errors of immunity (primary immunodeficiencies) |
| title_short | Inborn errors of immunity (primary immunodeficiencies) |
| title_sort | inborn errors of immunity primary immunodeficiencies |
| url | https://doi.org/10.1186/s13223-024-00938-z |
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