Les bases génétiques du déficit immunitaire commun variable : du commun au variable (notice n° 275765)
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| fixed length control field | 03856cam a2200397 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250117193449.0 |
| 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 | Allaoui, Abire |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Les bases génétiques du déficit immunitaire commun variable : du commun au variable |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2021.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 56 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | RésuméLe déficit immunitaire commun variable (DICV) est le déficit immunitaire primitif symptomatique le plus fréquent et qui est caractérisé par une hypogammaglobulinémie, une sensibilité accrue aux infections et des réponses vaccinales altérées. Le DICV est également caractérisé par une hétérogénéité clinique, immunologique et génétique considérable. Les formes monogéniques ne concernent qu’une minorité de patients atteints de DICV, à la différence des autres déficits immunitaires primitifs. Grâce à l’essor des nouvelles techniques en génétique, notamment le séquençage de nouvelle génération, un nombre croissant de gènes sont identifiés dans cette pathologie, qui font du DICV un syndrome regroupant de nombreuses entités pathologiques distinctes. Il est actuellement admis que le DICV est un syndrome complexe polygénique plutôt que monogénique. Une approche multi-omique alliant génomique, épigénétique et protéomique permettra d’éclairer la physiopathogénie complexe du DICV qui renferme encore bien des secrets. Cette approche intégrative, amènera également à proposer des thérapies plus ciblées, et donc une médecine de précision. Cette revue vise à discuter des connaissances actuelles concernant les bases génétiques et moléculaires des DICV ainsi que leur application en pratique clinique. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Common variable immunodeficiency (CVID) is one of the most prevalent primary immunodeficiencies. It is characterized by hypogammaglobulinaemia, increased susceptibility to infections and impaired vaccine responses. CVID has an important, clinical, immunological and genetic heterogeneity. A minority of patients present with monogenic forms in CVID, unlike other primary immunodeficiencies. With the development of new technologies in genetics, including next generation sequencing, the number of identified genes in CVID is increasing. Therefore, CVID is now considered as an umbrella disease, gathering distinct pathological entities. It is currently recognized that CVID is a complex polygenic rather than a monogenic syndrome. A multi-omic approach combining genomics, epigenetics and proteomics will shed light on CVID complex pathophysiology, which still enigmatic. This integrative approach will also offer more targeted therapies, and therefore a personalized medicine. This review aims to discuss current knowledge concerning the genetic and molecular bases of CVID as well as their application in clinical practice. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | déficit immunitaire commun variable (DICV) |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | déficit en anticorps |
| 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 | génétique |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | hypogamaglobulinémie |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | séquençage nouvelle génération |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Immune deficiency disease |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Antibody deficiency |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Next generation sequencing (NGS) |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Genetics |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Hypogammaglobulinemia |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Common variable immune deficiency (CVID) |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mokhantar, Khaoula |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jeddane, Leila |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dehbi, Hind |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ailal, Fatima |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bousfiha, Ahmed Aziz |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elkabli, Hassan |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moudatir, Mina |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Annales de Biologie Clinique | 79 | 5 | 2021-09-01 | p. 407-413 | 0003-3898 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-annales-de-biologie-clinique-2021-5-page-407?lang=fr&redirect-ssocas=7080">https://shs.cairn.info/revue-annales-de-biologie-clinique-2021-5-page-407?lang=fr&redirect-ssocas=7080</a> |
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