Maladies auto-immunes rares : place de la génétique, exemple du lupus systémique (notice n° 271700)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03061cam a2200301 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250112080912.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Tusseau, Maud |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Maladies auto-immunes rares : place de la génétique, exemple du lupus systémique |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2024.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 89 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Systemic lupus erythematosus (SLE) presents a complex clinical landscape with diverse manifestations, suggesting a multifactorial etiology. However, the identification of rare monogenic forms of the disease has shed light on specific genetic defects underlying SLE pathogenesis, offering valuable insights into its underlying mechanisms and clinical heterogeneity. By categorizing these monogenic forms based on the implicated signaling pathways, such as apoptotic body clearance, type I interferon signaling, JAK-STAT pathway dysregulation, innate immune receptor dysfunction and lymphocytic abnormalities, a more nuanced understanding of SLE’s molecular basis emerges. Particularly in pediatric populations, where monogenic forms are more prevalent, routine genetic testing becomes increasingly important, with a diagnostic yield of approximately 10% depending on the demographic and methodological factors involved. This approach not only enhances diagnostic accuracy but also informs personalized treatment strategies tailored to the specific molecular defects driving the disease phenotype. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Le lupus érythémateux systémique (LES) est une maladie auto-immune chronique caractérisée par une grande hétérogénéité clinique. Certaines formes rares de LES sont causées par des mutations génétiques spécifiques, contrairement à la nature multifactorielle généralement associée à la maladie. Ces formes monogéniques ont été décrites particulièrement dans les cas de LES à début pédiatrique. Leur découverte a permis une meilleure compréhension de la physiopathologie du LES, mettant en lumière la grande complexité des présentations cliniques. Nous proposons ici une classification basée sur les voies de signalisation sous-jacentes, impliquant la clairance des corps apoptotiques et des complexes immuns, les interférons de type I, les voies JAK-STAT, les récepteurs de l’immunité innée et les fonctions lymphocytaires. Dans les formes pédiatriques, un test génétique devrait être proposé systématiquement avec un rendement diagnostique autour de 10 % selon la population et les approches utilisées. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | déficit immunitaire primitif |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | interféronopathie |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | lupus monogénique |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | déficit en complément |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | auto-immunité |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | primary immunodeficiency |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | autoimmunity |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | interferonopathy |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | monogenic lupus |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | complement deficiency |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Belot, Alexandre |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Biologie Aujourd'hui | 218 | 1 | 2024-07-24 | p. 9-18 | 2105-0678 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-biologie-aujourdhui-2024-1-page-9?lang=fr">https://shs.cairn.info/revue-biologie-aujourdhui-2024-1-page-9?lang=fr</a> |
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