Red flags to suspect inborn errors of immunity in patients with autoimmune diseases
Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are increasingly recognized as phenotypes of inborn...
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Instituto Nacional de Salud
2024-12-01
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| Series: | Biomédica: revista del Instituto Nacional de Salud |
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| Online Access: | https://revistabiomedica.org/index.php/biomedica/article/view/7561 |
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| author | Natalia Vélez Juliette De Ávila Jaime Cortés Nelson Barrero Leosirlay Rojas Juan Manuel Bello Consuelo Romero-Sánchez |
| author_facet | Natalia Vélez Juliette De Ávila Jaime Cortés Nelson Barrero Leosirlay Rojas Juan Manuel Bello Consuelo Romero-Sánchez |
| author_sort | Natalia Vélez |
| collection | DOAJ |
| description | Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are increasingly recognized as phenotypes of inborn errors of immunity.
The objective of this article was to identify red flags or clinical/laboratory markers to suspect inborn errors of immunity in patients with autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases through a systematic literature review.
The study followed the systematic reviews and meta-analysis guidelines (PRISMA). After selection, we included 36 articles, and their methodological quality was verified using the Joanna Briggs Institute tools for individual risk of bias analysis.
The principal red flags in autoimmune cytopenias are chronic, recurrent, and refractory cytopenias, recurrent infection, severe infectious complications associated with immunosuppressive treatment, and chronic lymphoproliferation. In systemic lupus erythematosus, red flags include age of onset before five years, severe organ involvement, chilblain lesions, and chronic lymphoproliferation. For inflammatory bowel diseases, red flags are an age of onset before two years, resistance to conventional therapies, atypical endoscopic or histologic findings, and consanguineous parents. Autoimmune diseases may be the primary manifestation of inborn errors of immunity in pediatric and adult patients. An early diagnosis of a monogenic disorder allows for the tailoring of effective treatment plans, providing prognostic information to families, and offering genetic counseling. |
| format | Article |
| id | doaj-art-f78caaca427c47f3bd197f11e7ba2b6c |
| institution | Kabale University |
| issn | 0120-4157 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Instituto Nacional de Salud |
| record_format | Article |
| series | Biomédica: revista del Instituto Nacional de Salud |
| spelling | doaj-art-f78caaca427c47f3bd197f11e7ba2b6c2025-01-21T18:56:10ZengInstituto Nacional de SaludBiomédica: revista del Instituto Nacional de Salud0120-41572024-12-0144Sp. 223626210.7705/biomedica.75619016Red flags to suspect inborn errors of immunity in patients with autoimmune diseasesNatalia Vélez0https://orcid.org/0000-0002-2936-3679Juliette De Ávila1https://orcid.org/0000-0002-2441-7084Jaime Cortés2https://orcid.org/0009-0008-3808-0129Nelson Barrero3https://orcid.org/0000-0001-7761-9213Leosirlay Rojas4https://orcid.org/0009-0003-9061-9033Juan Manuel Bello5https://orcid.org/0000-0003-1982-124XConsuelo Romero-Sánchez6https://orcid.org/0000-0002-6973-7639 Grupo de Inmunología Celular y Molecular - InmuBo, Universidad El Bosque, Bogotá, D. C., Colombia; Inmunología Clínica y Alergia Pediátrica, Fundación Hospital Pediátrico La Misericordia, Bogotá, D. C., ColombiaGrupo de Inmunología Celular y Molecular - InmuBo, Universidad El Bosque, Bogotá, D. C., ColombiMedicina Interna, Escuela de Medicina, Universidad Militar Nueva Granada, Bogotá, D. C., ColombiaReumatología, Escuela de Medicina, Universidad Militar Nueva Granada, Bogotá, D. C., ColombiaReumatología Pediátrica, Facultad de Medicina, Universidad El Bosque, Bogotá, D. C., ColombiaReumatología, Escuela de Medicina, Universidad Militar Nueva Granada, Bogotá, D. C., Colombia; Grupo de Inmunología, Escuela de Medicina, Universidad Militar Nueva Granada, Bogotá, D. C., Colombia; Departamento de Reumatología e Inmunología, Hospital Militar Central, Bogotá, D. C., ColombiaGrupo de Inmunología Celular y Molecular - InmuBo, Universidad El Bosque, Bogotá, D. C., Colombia; Reumatología, Escuela de Medicina, Universidad Militar Nueva Granada, Bogotá, D. C., Colombia; Grupo de Inmunología, Escuela de Medicina, Universidad Militar Nueva Granada, Bogotá, D. C., Colombia; Departamento de Reumatología e Inmunología, Hospital Militar Central, Bogotá, D. C., ColombiaInborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are increasingly recognized as phenotypes of inborn errors of immunity. The objective of this article was to identify red flags or clinical/laboratory markers to suspect inborn errors of immunity in patients with autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases through a systematic literature review. The study followed the systematic reviews and meta-analysis guidelines (PRISMA). After selection, we included 36 articles, and their methodological quality was verified using the Joanna Briggs Institute tools for individual risk of bias analysis. The principal red flags in autoimmune cytopenias are chronic, recurrent, and refractory cytopenias, recurrent infection, severe infectious complications associated with immunosuppressive treatment, and chronic lymphoproliferation. In systemic lupus erythematosus, red flags include age of onset before five years, severe organ involvement, chilblain lesions, and chronic lymphoproliferation. For inflammatory bowel diseases, red flags are an age of onset before two years, resistance to conventional therapies, atypical endoscopic or histologic findings, and consanguineous parents. Autoimmune diseases may be the primary manifestation of inborn errors of immunity in pediatric and adult patients. An early diagnosis of a monogenic disorder allows for the tailoring of effective treatment plans, providing prognostic information to families, and offering genetic counseling.https://revistabiomedica.org/index.php/biomedica/article/view/7561autoimmunityautoimmune diseasesearly-onset immune dysregulationcytopeniaanemia, hemolytic, autoimmunethrombocytopenialupus erythematosus, systemicinflammatory bowel disease |
| spellingShingle | Natalia Vélez Juliette De Ávila Jaime Cortés Nelson Barrero Leosirlay Rojas Juan Manuel Bello Consuelo Romero-Sánchez Red flags to suspect inborn errors of immunity in patients with autoimmune diseases Biomédica: revista del Instituto Nacional de Salud autoimmunity autoimmune diseases early-onset immune dysregulation cytopenia anemia, hemolytic, autoimmune thrombocytopenia lupus erythematosus, systemic inflammatory bowel disease |
| title | Red flags to suspect inborn errors of immunity in patients with autoimmune diseases |
| title_full | Red flags to suspect inborn errors of immunity in patients with autoimmune diseases |
| title_fullStr | Red flags to suspect inborn errors of immunity in patients with autoimmune diseases |
| title_full_unstemmed | Red flags to suspect inborn errors of immunity in patients with autoimmune diseases |
| title_short | Red flags to suspect inborn errors of immunity in patients with autoimmune diseases |
| title_sort | red flags to suspect inborn errors of immunity in patients with autoimmune diseases |
| topic | autoimmunity autoimmune diseases early-onset immune dysregulation cytopenia anemia, hemolytic, autoimmune thrombocytopenia lupus erythematosus, systemic inflammatory bowel disease |
| url | https://revistabiomedica.org/index.php/biomedica/article/view/7561 |
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