Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood
Monogenic Interleukin 1 (IL-1) mediated autoinflammatory diseases (AID) are rare, often severe illnesses of the innate immune system associated with constitutively increased secretion of pro-inflammatory cytokines. Clinical characteristics include recurrent fevers, inflammation of joints, skin, and...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-03-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2021.516427/full |
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| author | Tatjana Welzel Tatjana Welzel Susanne M. Benseler Jasmin B. Kuemmerle-Deschner |
| author_facet | Tatjana Welzel Tatjana Welzel Susanne M. Benseler Jasmin B. Kuemmerle-Deschner |
| author_sort | Tatjana Welzel |
| collection | DOAJ |
| description | Monogenic Interleukin 1 (IL-1) mediated autoinflammatory diseases (AID) are rare, often severe illnesses of the innate immune system associated with constitutively increased secretion of pro-inflammatory cytokines. Clinical characteristics include recurrent fevers, inflammation of joints, skin, and serous membranes. CNS and eye inflammation can be seen. Characteristically, clinical symptoms are coupled with elevated inflammatory markers, such as C-reactive protein (CRP) and serum amyloid A (SAA). Typically, AID affect infants and children, but late-onset and atypical phenotypes are described. An in-depth understanding of autoinflammatory pathways and progress in molecular genetics has expanded the spectrum of AID. Increasing numbers of genetic variants with undetermined pathogenicity, somatic mosaicisms and phenotype variability make the diagnosis of AID challenging. AID should be diagnosed as early as possible to prevent organ damage. The diagnostic approach includes patient/family history, ethnicity, physical examination, specific functional testing and inflammatory markers (SAA, CRP) during, and in between flares. Genetic testing should be performed, when an AID is suspected. The selection of genetic tests is guided by clinical findings. Targeted and rapid treatment is crucial to reduce morbidity, mortality and psychosocial burden after an AID diagnosis. Management includes effective treat-to-target therapy and standardized, partnered monitoring of disease activity (e.g., AIDAI), organ damage (e.g., ADDI), patient/physician global assessment and health related quality of life. Optimal AID care in childhood mandates an interdisciplinary team approach. This review will summarize the current evidence of diagnosing and managing children with common monogenic IL-1 mediated AID. |
| first_indexed | 2024-12-16T16:27:26Z |
| format | Article |
| id | doaj.art-b8145403e3c54f0fa72e0c4b6e520a66 |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-12-16T16:27:26Z |
| publishDate | 2021-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-b8145403e3c54f0fa72e0c4b6e520a662022-12-21T22:24:42ZengFrontiers Media S.A.Frontiers in Immunology1664-32242021-03-011210.3389/fimmu.2021.516427516427Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in ChildhoodTatjana Welzel0Tatjana Welzel1Susanne M. Benseler2Jasmin B. Kuemmerle-Deschner3Autoinflammation Reference Center Tuebingen (arcT) and Division of Pediatric Rheumatology, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, GermanyPediatric Pharmacology and Pharmacometrics, University Children‘s Hospital Basel (UKBB), University Basel, Basel, SwitzerlandRheumatology, Department of Pediatrics, Alberta Children's Hospital (ACH), ACH Research Institute, University of Calgary, Calgary, AB, CanadaAutoinflammation Reference Center Tuebingen (arcT) and Division of Pediatric Rheumatology, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, GermanyMonogenic Interleukin 1 (IL-1) mediated autoinflammatory diseases (AID) are rare, often severe illnesses of the innate immune system associated with constitutively increased secretion of pro-inflammatory cytokines. Clinical characteristics include recurrent fevers, inflammation of joints, skin, and serous membranes. CNS and eye inflammation can be seen. Characteristically, clinical symptoms are coupled with elevated inflammatory markers, such as C-reactive protein (CRP) and serum amyloid A (SAA). Typically, AID affect infants and children, but late-onset and atypical phenotypes are described. An in-depth understanding of autoinflammatory pathways and progress in molecular genetics has expanded the spectrum of AID. Increasing numbers of genetic variants with undetermined pathogenicity, somatic mosaicisms and phenotype variability make the diagnosis of AID challenging. AID should be diagnosed as early as possible to prevent organ damage. The diagnostic approach includes patient/family history, ethnicity, physical examination, specific functional testing and inflammatory markers (SAA, CRP) during, and in between flares. Genetic testing should be performed, when an AID is suspected. The selection of genetic tests is guided by clinical findings. Targeted and rapid treatment is crucial to reduce morbidity, mortality and psychosocial burden after an AID diagnosis. Management includes effective treat-to-target therapy and standardized, partnered monitoring of disease activity (e.g., AIDAI), organ damage (e.g., ADDI), patient/physician global assessment and health related quality of life. Optimal AID care in childhood mandates an interdisciplinary team approach. This review will summarize the current evidence of diagnosing and managing children with common monogenic IL-1 mediated AID.https://www.frontiersin.org/articles/10.3389/fimmu.2021.516427/fulltreat-to-targetAID managementmultidisciplinary teamdisease activitymonitoringautoinflammation |
| spellingShingle | Tatjana Welzel Tatjana Welzel Susanne M. Benseler Jasmin B. Kuemmerle-Deschner Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood Frontiers in Immunology treat-to-target AID management multidisciplinary team disease activity monitoring autoinflammation |
| title | Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood |
| title_full | Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood |
| title_fullStr | Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood |
| title_full_unstemmed | Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood |
| title_short | Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood |
| title_sort | management of monogenic il 1 mediated autoinflammatory diseases in childhood |
| topic | treat-to-target AID management multidisciplinary team disease activity monitoring autoinflammation |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2021.516427/full |
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