Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians
Abstract Inborn errors of immunity (IEI) comprise a group of about 490 genetic disorders that lead to aberrant functioning or the development of distinct immune system components. So far, a broad spectrum of IEI‐related manifestations has been noted in the literature. Due to overlapping signs and sy...
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| Format: | Article |
| Language: | English |
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Wiley
2023-04-01
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| Series: | Immunity, Inflammation and Disease |
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| Online Access: | https://doi.org/10.1002/iid3.833 |
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| author | Fatemeh Mohammadi Amirhossein Yadegar Mahta Mardani Aryan Ayati Hassan Abolhassani Nima Rezaei |
| author_facet | Fatemeh Mohammadi Amirhossein Yadegar Mahta Mardani Aryan Ayati Hassan Abolhassani Nima Rezaei |
| author_sort | Fatemeh Mohammadi |
| collection | DOAJ |
| description | Abstract Inborn errors of immunity (IEI) comprise a group of about 490 genetic disorders that lead to aberrant functioning or the development of distinct immune system components. So far, a broad spectrum of IEI‐related manifestations has been noted in the literature. Due to overlapping signs and symptoms of IEI, physicians face challenges in appropriately diagnosing and managing affected individuals. The last decade has witnesses improving in the molecular diagnosis of IEI patients. As a result, it can be the mainstay of diagnostic algorithms, prognosis, and possibly therapeutic interventions in patients with IEI. Furthermore, reviewing IEI clinical complications demonstrates that the manifestations and severity of the symptoms depend on the involved gene that causes the disease and its penetrance. Although several diagnostic criteria have been used for IEI, not every patient can be explored in the same way. As a result of the failure to consider IEI diagnosis and the variety of diagnostic capabilities and laboratory facilities in different regions, undiagnosed patients are increasing. On the other hand, early diagnosis is an almost essential element in improving the quality of life in IEI patients. Since there is no appropriate guideline for IEI diagnosis in different organs, focusing on the clues in the patient's chief complaint and physical exams can help physicians narrow their differential diagnosis. This article aims to provide a practical guide for IEI diagnosis based on the involved organ. We hope to assist clinicians in keeping IEI diagnosis in mind and minimizing possible related complications due to delayed diagnosis. |
| format | Article |
| id | doaj-art-9e81a3f9b76e43a5b536967fd3953bfa |
| institution | DOAJ |
| issn | 2050-4527 |
| language | English |
| publishDate | 2023-04-01 |
| publisher | Wiley |
| record_format | Article |
| series | Immunity, Inflammation and Disease |
| spelling | doaj-art-9e81a3f9b76e43a5b536967fd3953bfa2025-08-20T03:06:26ZengWileyImmunity, Inflammation and Disease2050-45272023-04-01114n/an/a10.1002/iid3.833Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for cliniciansFatemeh Mohammadi0Amirhossein Yadegar1Mahta Mardani2Aryan Ayati3Hassan Abolhassani4Nima Rezaei5School of Medicine Tehran University of Medical Sciences Tehran IranSchool of Medicine Tehran University of Medical Sciences Tehran IranSchool of Medicine Tehran University of Medical Sciences Tehran IranResearch Center for Advanced Technologies in Cardiovascular Medicine, Tehran Heart Center Tehran University of Medical Science Tehran IranResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Tehran University of Medical Sciences Tehran IranUniversal Scientific Education and Research Network (USERN) Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA) Tehran IranAbstract Inborn errors of immunity (IEI) comprise a group of about 490 genetic disorders that lead to aberrant functioning or the development of distinct immune system components. So far, a broad spectrum of IEI‐related manifestations has been noted in the literature. Due to overlapping signs and symptoms of IEI, physicians face challenges in appropriately diagnosing and managing affected individuals. The last decade has witnesses improving in the molecular diagnosis of IEI patients. As a result, it can be the mainstay of diagnostic algorithms, prognosis, and possibly therapeutic interventions in patients with IEI. Furthermore, reviewing IEI clinical complications demonstrates that the manifestations and severity of the symptoms depend on the involved gene that causes the disease and its penetrance. Although several diagnostic criteria have been used for IEI, not every patient can be explored in the same way. As a result of the failure to consider IEI diagnosis and the variety of diagnostic capabilities and laboratory facilities in different regions, undiagnosed patients are increasing. On the other hand, early diagnosis is an almost essential element in improving the quality of life in IEI patients. Since there is no appropriate guideline for IEI diagnosis in different organs, focusing on the clues in the patient's chief complaint and physical exams can help physicians narrow their differential diagnosis. This article aims to provide a practical guide for IEI diagnosis based on the involved organ. We hope to assist clinicians in keeping IEI diagnosis in mind and minimizing possible related complications due to delayed diagnosis.https://doi.org/10.1002/iid3.833clinical manifestationdiagnosisguidelineinborn errors of immunityprimary immunodeficiency |
| spellingShingle | Fatemeh Mohammadi Amirhossein Yadegar Mahta Mardani Aryan Ayati Hassan Abolhassani Nima Rezaei Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians Immunity, Inflammation and Disease clinical manifestation diagnosis guideline inborn errors of immunity primary immunodeficiency |
| title | Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians |
| title_full | Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians |
| title_fullStr | Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians |
| title_full_unstemmed | Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians |
| title_short | Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians |
| title_sort | organ based clues for diagnosis of inborn errors of immunity a practical guide for clinicians |
| topic | clinical manifestation diagnosis guideline inborn errors of immunity primary immunodeficiency |
| url | https://doi.org/10.1002/iid3.833 |
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