- Syndrome d’immunodéficience sévère combiné
- Bibliographie
- Articles scientifiques: 2015, 2014, 2013, 2012, 2011, 2010, 2009, 2008, 2007, 2006, 2005, 2004, <2004
- Sites internet
- Laboratoires d’analyses ADN
Synonyme (en) | Severe Combined Immunodeficiency Disorder |
Français |
Syndrome d’immunodéficience sévère combiné
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Synonyme (fr)
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Défaut immunitaire sévère chez l’arabe
Déficit immunitaire combiné sévère
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Allemand
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Schwere kombinierte Immundefizienz
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Gène
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DNAPK (DNA-dependent protein kinase catalytic subunit)
Syn. DNA-PKcs, DNA-PK
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Chromosome | ECA9 |
OMIA#
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OMIA 000220-9796
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NCBI gene
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Mutation
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5-basepair deletion
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Mode de transmission
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Autosomique récessif
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Caractères / symptômes
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SCID est une déficience létale primaire du système immunitaire (trouble congénital du système immunitaire). Le symptôme cardinal est une susceptibilité accrue aux infections (bactéries, virus, parasites, champignons, etc.). La maladie est incurable Réduction des défenses immunitaires. Lymphopénie: absence de lymphocytes B et T. Les poulains sont normaux à la naissance et bénéficient de l’immunité passive de la mère (colostrum) pendant quelques semaines. Privés de défense immunitaire propre (production d’immunoglobulines), ils sont sensibles aux infections (surtout respiratoires) et meurent de complications dans les 3-6 mois suivant leur naissance. |
Contraintes |
Restriction sévère d'une fonction organique (système immunitaire). Dommages qui provoquent des pertes totales de fonctionnalité affectant fortement l’état général et la qualité de vie de l’animal: immunodéficience, infections persistantes, issue fatale en l’espace de 3-6 mois ou euthanasie. Les critères déterminants pour l’évaluation des contraintes sont en particulier:
Stratégie d’élevage et mesures
Parents
Test ADN; accouplements ciblés, adaptation de la stratégie d’élevage (les animaux porteurs ne doivent pas être affectés à l’élevage) Descendants atteints
Diagnostic (test ADN); euthanasie |
Races
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Arabes et chevaux issus de croisement avec l'arabe
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% de porteurs | 0-8% (diverses sources) |
Fondateur | Pas publié |
Test ADN
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OUI: AGROBIOGEN, Animal Genetics, BIOFOCUS, CAG, Certagen, GenControl, LABEO, LABOKLIN, PROGENUS, VetGen, VHL
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Remarques
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Les immunodéficiences primaires regroupent des maladies congénitales qui affectent les fonctions du système immunitaires. Les troubles suivants ont été identifiés chez le cheval:
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(en) KENNEDY M. (2015). Immunodeficiencies and immune-mediated disorders in foals. Doctoral dissertation, Faculty Of Veterinary Science Budapest, 45 pages
- Hungarian Veterinary Archive http://huveta.hu/handle/10832/4
- Abstract <http://huveta.hu/handle/10832/1371>
- Pdf <http://huveta.hu/bitstream/10832/1371/1/KennedyMariaThesis.pdf>
- [Consulté: 27.09.2015]
(en) SHAHIDZADE ARBANI R, TARANG A, RAFEIE F, POTKI P, SEIGHALANI R, BANIYAGHOUB S, VAHIDI MF, AJAMIAN F. (2015). Genetic Monitoring for Severe Combined Immunodeficiency Disease (SCID) Carriers in Arabian Horses of Iran. Journal of Agricultural Science and Technology, 17(3): 615-622
- Journal of Agricultural Science and Technology http://jast.modares.ac.ir/
- Abstract <http://jast.modares.ac.ir/article_12689_5171.html>
- Pdf <http://jast.modares.ac.ir/pdf_12689_07edbe8712ec6c0eb0dd37a8d7b1d022.html>
- [Consulté: 02.05.2015]
(fr) DANVY S, DUMONT ST PRIEST B. (2014). Le gène SCID (Severe combined immunodeficiency) [Màj Mai 2014], Les haras nationaux, IFCE
- Les haras nationaux, IFCE <http://www.haras-nationaux.fr/information/accueil-equipaedia/maladies/maladies-genetiques/le-gene-scid.html>
- pdf <http://www.haras-nationaux.fr/information/accueil-equipaedia/maladies/maladies-genetiques/le-gene-scid.html?type=12>
- [Consulté: 06.10.2014]
(en) KUL B Ç, AĞAOĞLU ÖK, ERTUĞRUL O, DURMAZ M. (2014). Investigation of severe combined immunodeficiency (SCID) disease of Arabian horses raised at the state stud farms in Turkey. Ankara Üniversitesi Veteriner Fakültesi Dergisi, 61(1): 59-63
- DOI: 10.1501/Vetfak_0000002606
- Ankara Üniversitesi Veteriner Fakültesi Dergisi http://vetfakderg.ankara.edu.tr/
- Pdf <http://dergiler.ankara.edu.tr/dergiler/11/1835/19294.pdf>
- [Consulté: 06.10.2014]
(en) TARR CJ, THOMPSON PN, GUTHRIE AJ, HARPER CK. (2014). The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa. Equine Veterinary Journal. 46(4): 512–514.
- DOI: 10.1111/evj.12177
- Equine Veterinary Journal http://onlinelibrary.wiley.com/journal/10.1001/(ISSN)2042-3306
- Abstract <http://onlinelibrary.wiley.com/doi/10.1111/evj.12177/abstract>
- Pdf <http://onlinelibrary.wiley.com/doi/10.1111/evj.12177/pdf>
- [Consulté: 21.07.2014]
(en) TARR CJ. (2013). The prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa. Dissertation, University of Pretoria, 56 pages
- Abstract <http://137.215.9.22/handle/2263/25848>
- Pdf <http://137.215.9.22/bitstream/handle/2263/25848/dissertation.pdf>
- [Consulté: 06.10.2014]
(en) LARSON J, BUECHNER-MAXWELL V, CRISMAN MV, LEROITH T, WITONSKY S. (2011). Severe combined immunodeficiency in a Caspian filly. Journal of Veterinary Internal Medicine,25(4): 954-958
- DOI: 10.1111/j.1939-1676.2011.0746.x
- Journal of Veterinary Internal Medicine http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1939-1676
- Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1939-1676.2011.0746.x/abstract>
- Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1939-1676.2011.0746.x/pdf>
- [Consulté: 06.10.2014]
(en) PIRO M, BENJOUAD A, KAROM A, NABICH A, BENBIHI N, EL ALLALI K, MACHMOUM M, OURAGH L. (2011). Genetic Structure of Severe Combined Immunodeficiency Carrier Horses in Morocco Inferred by Microsatellite Data. Journal of Equine Veterinary Science, 31(11): 618–624
- DOI: 10.1016/j.jevs.2011.03.013
- Journal of Equine Veterinary Science http://www.sciencedirect.com/science/journal/07370806
- Abstract <http://www.sciencedirect.com/science/article/pii/S0737080611001055>
- Pdf <http://www.sciencedirect.com/science/article/pii/S0737080611001055/pdf?md5=d71abebd50b7196303725d6869f95942&pid=1-s2.0-S0737080611001055-main.pdf>
- [Consulté: 06.10.2014]
(fr) BELLET L (2009). L’immunodéficience sévère combinée du Pur Sang Arabe : Mise au point d’un test de diagnostic moléculaire. Thèse vétérinaire, Lyon, 140 pages
- Pdf <http://www2.vetagro-sup.fr/bib/fondoc/th_sout/dl.php?file=2009lyon042.pdf>
- [Consulté: 06.10.2014]
(en) FINNO CJ, SPIER SJ, VALBERG SJ. (2009). Equine diseases caused by known genetic mutations. Veterinary Journal, 179(3): 336–347
- DOI: 10.1016/j.tvjl.2008.03.016
- The Veterinary Journal http://www.sciencedirect.com/science/journal/10900233
- Abstract <http://www.sciencedirect.com/science/article/pii/S1090023308001275>
- Pdf <http://www.sciencedirect.com/science/article/pii/S1090023308001275/pdf?md5=4b0a871cf9ad6b1e1c3badff70ad2ed4&pid=1-s2.0-S1090023308001275-main.pdf>
- [Consulté: 20.07.2014]
(de) KRÖSBACHER AE. (2008). Das Arabische Vollblut: Eine kontrovers diskutierte Rasse Was steckt wirklich hinter der Zucht dieser edlen Pferde? Bakkalaureatsarbeit, Veterinärmedizinische Universität Wien, 95 pages
- Pdf <http://www.vetmeduni.ac.at/fileadmin/v/hs/hochschulschriften/bakk-pferdewissen/AC07056893.pdf>
- [Consulté: 06.10.2014]
(en) PIRO M, BENJOUAD A, TLIGUI NS, EL ALLALI K, EL KOHEN M, NABICH A, OURAGH L. (2008). Frequency of the severe combined immunodeficiency disease gene among horses in Morocco. Equine Veterinary Journal, 40(6): 590-591
- DOI: 10.2746/042516408X333001
- Equine Veterinary Journal http://onlinelibrary.wiley.com/journal/10.1001/(ISSN)2042-3306
- Abstract <http://onlinelibrary.wiley.com/doi/10.2746/042516408X333001/abstract>
- Pdf <http://onlinelibrary.wiley.com/doi/10.2746/042516408X333001/pdf>
- [Consulté: 06.10.2014]
(en) LUND L. (2007). Equine Severe Combined Immunodeficiency. Examensarbete, MSc Agriculture, SLU, Faculty of Veterinary Medicine and Animal Science, Uppsala, 11 pages
- Abstract <http://ex-epsilon.slu.se:8080/archive/00001709/>
- Pdf <http://ex-epsilon.slu.se:8080/archive/00001709/01/Equine_SCID.pdf>
- [Consulté: 06.10.2014]
(en) PEELMAN LJ, MATTHEEUWS M, DENOO H, VAN POUCKE M, VAN ZEVEREN A. (2006). Frequency sampling of the SCID allele in the Belgian population of Arabian horses. Vlaams Diergeneeskundig Tijdschrift, 75(1): 31-34
- Vlaams Diergeneeskundig Tijdschrift http://vdt.ugent.be/
- Abstract <http://vdt.ugent.be/?q=en/content/75-1-31-34>
- Pdf <http://vdt.ugent.be/sites/default/files/art75106.pdf>
- [Consulté: 06.10.2014]
(en) PERRYMAN LE. (2004). Molecular Pathology of Severe Combined Immunodeficiency in Mice, Horses, and Dogs. Veterinary Pathology, 41(2): 95-100
- DOI: 10.1354/vp.41-2-95
- Verinary Pathology http://vet.sagepub.com/
- Abstract <http://vet.sagepub.com/content/41/2/95.abstract>
- Pdf <http://vet.sagepub.com/content/41/2/95.full.pdf+html>
- [Consulté: 06.10.2014]
(en) BERNOCO D, BAILEY E. (1998). Frequency of the SCID gene among Arabian horses in the USA. Animal Genetics, 29(1): 41-42
- DOI: 10.1046/j.1365-2052.1998.00237.x
- Animal Genetics http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-2052
- Abstract <http://onlinelibrary.wiley.com/doi/10.1046/j.1365-2052.1998.00237.x/abstract>
- Pdf <http://onlinelibrary.wiley.com/doi/10.1046/j.1365-2052.1998.00237.x/pdf>
- [Consulté: 06.10.2014]
(en) DING Q, BRAMBLE L, YUZBASIYAN-GURKAN V, BELL T, MEEK K. (2002). DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia. Gene, 283(1-2):263-239
- DOI: 10.1016/S0378-1119(01)00880-0
- Gene http://www.sciencedirect.com/science/journal/03781119
- Abstract <http://www.sciencedirect.com/science/article/pii/S0378111901008800>
- Pdf <http://www.sciencedirect.com/science/article/pii/S0378111901008800/pdf?md5=9dddbaca93c818df643fa9a976978395&pid=1-s2.0-S0378111901008800-main.pdf>
- [Consulté: 06.10.2014]
(en) JONES W.E. (1997). Severe combined immunodeficiency now a solution. Journal of Equine Veterinary Science, 17(12):630-632, 1997
- DOI: 10.1016/S0737-0806(97)80232-8
- Journal of Equine Veterinary Science http://www.sciencedirect.com/science/journal/07370806
- Abstract <http://www.sciencedirect.com/science/article/pii/S0737080697802328>
- Pdf <http://www.sciencedirect.com/science/article/pii/S0737080697802328/pdf?md5=fae7774af6bd1163ff8b55041f9a248e&pid=1-s2.0-S0737080697802328-main.pdf>
- [Consulté: 06.10.2014]
(en) LEBER R, WILER R, PERRYMAN LE, MEEK K. (2002). Equine SCID: mechanistic analysis and comparison with murine SCID. Veterinary Immunology and Immunopathology, 65(1):1-9
- DOI: 10.1016/S0165-2427(98)00174-3
- Veterinary Immunology and Immunopathology http://www.sciencedirect.com/science/journal/01652427
- Abstract <http://www.sciencedirect.com/science/article/pii/S0165242798001743>
- Pdf <http://www.sciencedirect.com/science/article/pii/S0165242798001743/pdf?md5=7fe1d99d26588f5dc2659fdcf0fe1dd2&pid=1-s2.0-S0165242798001743-main.pdf>
- [Consulté: 06.10.2014]
(en) SHIN EK, PERRYMAN LE, MEEK K. (1997). A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation. The Journal of Immunology, 158(8): 3565-3569
- The Journal of Immunology http://www.jimmunol.org/
- Abstract <http://www.jimmunol.org/content/158/8/3565.short>
- Pdf <http://www.jimmunol.org/content/158/8/3565.full.pdf+html>
- [Consulté: 06.10.2014]
(en) SWINBURNE J, LOCKHART L, SCOTT M, BINNS M M. (1999). Estimation of the prevalence of Severe Combined Immunodeficiency Disease in UK Arab horses as determined by a DNA-based test. The Veterinary Record, 145 22-23
- DOI:10.1136/vr.145.1.22
- Veterinary Record http://veterinaryrecord.bmj.com/
- Pdf <http://veterinaryrecord.bmj.com/content/145/1/22.full.pdf+html>
- [Consulté: 06.10.2014]
(en) WILER R, LEBER R, MOORE BB, VANDYK LF, PERRYMAN LE, MEEK K. (1995). Equine severe combined immunodeficiency - a defect in V(D)J recombination and DNA-dependent protein kinase activity. Proceedings of the National Academy of Sciences of the United States of America, 92(25): 11485-11489
- Proceedings of the National Academy of Sciences of the United States of America http://www.pnas.org/
- Abstract <http://www.pnas.org/content/92/25/11485.abstract>
- Pdf <http://www.pnas.org/content/92/25/11485.full.pdf>
- [Consulté: 06.10.2014]
(en) Cornell University, College of Veterinary Medicine, The Equine Immunology Lab, Severe Combined Immunodeficiency (SCID)
- html http://www.vet.cornell.edu/labs/EquineImmuno/combined.cfm
- [Consulté: 06.10.2014]
(en) SWINBURNE J, BINNS M, The animal Trust, Severe Combined Immunodeficiency Disease (SCID)
- html http://www.arabianlines.com/horse_health/Animal%20Health%20Trust/AHT_SCID.htm
- [Consulté: 06.10.2014]
(en) AGROBIOGEN, Genotypisierung Pferd, SCID
- html http://www.agrobiogen.de/abstammung-diagnostik-genotypisierung/pferd/scid
- [Consulté: 22.09.2014]
(en) Animal Genetics UK, Equine Testing, Severe Combined Immunodeficiency (SCID)
- html http://www.animalgenetics.eu/Equine/equine-genetic-disease/scid.html
- [Consulté: 06.10.2014]
(de) BIOFOCUS, SCID – die erbliche Immunschwächeerkrankung beim Araber
- html http://www.biofocus.de/de/tier/pferd/erbkrankheiten/
- pdf http://www.biofocus.de/PDF/Pferd/BF_442_Krankheiten-SCID.pdf
- [Consulté: 18.11.2014]
(de) Certagen GmbH, Analytik, Pferd, SCID-Test
- html http://www.certagen.de/en-us/dnatests/horse/geneticdiseases.aspx
- Order Form <http://www.certagen.de/Portals/7/Documents/Order%20Forms/Pferd_Gentest_en.pdf>
- [Consulté: 27.09.2015]
(de) GeneControl, Erbkrankheiten, SCID
- html http://www.genecontrol.de/scid.html
- [Consulté: 06.10.2014]
(fr) LABEO Laboratoire Frank Duncombe, 1 rote du Rozel, 14053 Caen cedex
- html http://www.labo-frank-duncombe.fr/
- pdf http://www.labo-frank-duncombe.fr/files/fck/files/catalogue-2014.pdf
- [Consulté: 03.08.2014]
(fr) LABOKLIN Bâle, Le défaut immunitaire sévère chez l’arabe (SCID)
- html http://www.laboklin.ch/pages/html/fr/genetique_animale/maladie_hereditaire_cheval/cheval_SCID.htm
- [Consulté: 06.10.2014]
(en) Progenus, Genetic Tests, Horse/SCID
- html http://www.progenus.be/genetic-tests/127-horse-scid
- [Consulté: 21.07.2014]
- html http://www.vetgen.com/equine-scid-service.html
- [Consulté: 14.11.2014]