| Synonym (en) |
Fell pony foal syndrome (FPFS)
Foal immunodeficiency syndrome in the Fell and Dales Pony |
| Deutsch |
Fell-Pony-Immundefizienz-Syndrom
|
| Synonym (de) | Fell-Fohlen-Syndrom |
|
Französisch
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Syndrome d’immunodéficience du poulain |
|
Gen
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SLC5A3 (solute carrier family 5 (sodium/myo-inositol cotransporter), member 3)
|
| Chromosom | ECA26 |
|
OMIA#
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OMIA 001578-9796
|
|
NCBI gene
|
|
|
Mutation (Quelle)
|
Missense mutation in the sodium/myo-inositol cotransporter gene (SLC5A3),which causes a P446L substitution in the protein. This substitution alters the function of SLC5A3.
C/T substitution: Pro/Leu (Metzger J et al, 2014)
|
| Erbgang |
Autosomal rezessiv
|
| Merkmale / Symptome |
Das Fell-Pony-Immundefizienz-Syndrom ist eine primäre Immundefizienz (angeborene Störungen des Immunsystems). Das Hauptsymptom ist eine erhöhte Infektionsanfälligkeit (Bakterien, Viren, Parasiten, Pilze, usw.). Fohlen bei der Geburt normal. 2.-6. Woche: progressive Anämie, Lymphopenie, Lethargie und Verlust des Saugreflexes; Immunschwäche (Durchfall, Nasenausfluss, Husten, usw.). Die Fohlen sterben etwa im dritten Lebensmonat. 100% Mortalität |
| Belastungen |
Erblich bedingte tiefgreifende Einschränkung einer Organfunktion (Immunsystem); Immunschwäche, persistierende Infektionen, Tod oder Euthanasie Massgebende Kriterien für die Beurteilung der Belastungen sind insbesondere:
Zuchtstrategie und Massnahmen
Eltern
DNA-Test (Animal Genetics US, AHT, CAG, Certagen, LABOKLIN, VHL); gezielte Anpaarungen, Anpassung des Zuchtprogramms (Trägertiere sollten in der Zucht nicht eingesetzt werden) Betroffene Nachkommen
Diagnose (DNA-Test); betroffene Tiere sollten in der Zucht nicht eingesetzt werden; Euthanasie. |
| Rasse | Fell Pony, Dale Pony, Coloured Ponies |
| Trägerfrequenz (%) |
Fell Pony 38%; Dale Pony 18%
|
| Gründer | -- |
| DNA-Test | |
| Bemerkungen |
Primäre Immundefizienzen sind genetisch fixierte Dysregulationskrankheiten des Immunsystems. Nachfolgend sind die beim Pferd identifizierten primären Immundefekte aufgelistet: |
(en) KENNEDY M. (2015). Immunodeficiencies and immune-mediated disorders in foals. Doctoral dissertation, Faculty Of Veterinary Science Budapest, 45 Seiten
- 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>
- [Stand: 27.09.2015]
(en) METZGER J, TONDA R, BELTRAN S, ÁGUEDA L, GUT M, DISTL O. (2014). Next generation sequencing gives an insight into the characteristics of highly selected breeds versus non-breed horses in the course of domestication. BMC Genomics, 15:562
- DOI:10.1186/1471-2164-15-562
- BMC Genomics http://www.biomedcentral.com/bmcgenomics/
- Abstract <http://www.biomedcentral.com/1471-2164/15/562>
- Pdf <http://www.biomedcentral.com/content/pdf/1471-2164-15-562.pdf>
- [Stand: 19.09.2014]
(en) CARTER SD, FOX-CLIPSHAM LY, CHRISTLEY R, SWINBURNE JE. (2013). Foal immunodeficiency syndrome: carrier testing has markedly reduced disease incidence. Veterinary Record, 172:398
- DOI 10.1136/vr.101451
- Veterinary Record http://veterinaryrecord.bmj.com
- Abstract <http://veterinaryrecord.bmj.com/content/172/15/398.2>
- Pdf <http://veterinaryrecord.bmj.com/content/172/15/398.2.full.pdf+html>
- [Stand: 19.09.2014]
(en) BAILEY E. (2011). Screening for foal immunodeficiency syndrome. Veterinary Record, 169:653-654
- DOI:10.1136/vr.d8118
- Veterinary Record http://veterinaryrecord.bmj.com
- Abstract <http://veterinaryrecord.bmj.com/content/169/25/653>
- Pdf <http://veterinaryrecord.bmj.com/content/169/25/653.full.pdf+html>
- [Stand: 19.09.2014]
(en) FOX-CLIPSHAM LY, BROWN EE, CARTER SD, SWINBURNE JE. (2011a). Population screening of endangered horse breeds for the foal immunodeficiency syndrome mutation. Veterinary Record;169:655
- DOI: 10.1136/vr.100235
- Veterinary Record http://veterinaryrecord.bmj.com
- Abstract < http://veterinaryrecord.bmj.com/content/169/25/655>
- Pdf < http://veterinaryrecord.bmj.com/content/169/25/655.full.pdf+html>
- [Stand: 19.09.2014]
(en) FOX-CLIPSHAM LY, CARTER SD, GOODHEAD I, HALL N, KNOTTENBELT DC, MAY PD, OLLIER WE, SWINBURNE JE. (2011b). Identification of a mutation associated with fatal Foal Immunodeficiency Syndrome in the Fell and Dales pony. PLoS Genetics, 7(7): e1002133.
- DOI: 10.1371/journal.pgen.1002133
- PLOS Genetics http://www.plosgenetics.org
- Abstract <http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002133>
- Pdf <http://www.plosgenetics.org/article/fetchObject.action?uri=info%3Adoi%2F10.1371%2Fjournal.pgen.1002133&representation=PDF>
- [Stand: 19.09.2014]
(en) FOX-CLIPSHAM LY. (2011). Foal immunodeficiency syndrome : identification of the causal mutation. Thesis, University of Liverpool.
- Abstract <http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.569771>
- [Stand: 19.09.2014]
(en) CARTER SD, KNOTTENBELT DC, KELLY DF, MAY P, BELL SC, THOMAS GW, FOX-CLIPSHAM L, SWINBURNE J. (2010). Fell (and Dales) pony immunodeficiency syndrome (FIS). Proceedings of the 49th British Equine Veterinary Association Congress 2010 - Birmingham, United Kingdom, p. 164.
- Pdf <http://www.beva.org.uk/_uploads/documents/p151-158-fri-hall-8b-v2-proof.pdf>
- [Stand: 19.09.2014]
(en) TALLMADGE RL, STOKOL T, GOULD-EARLEY MJ, EARLEY E, SECOR EJ, MATYCHAK MB, FELIPPE MJ. (2010). Fell Pony Syndrome: Characterization of Developmental Hematopoiesis Failure and Associated Gene Expression Profiles. Clinical and Vaccine Immunology, 19(7): 1054-1064.
- DOI: 10.1128/CVI.00237-12
- Clinical and Vaccine Immunology http://cvi.asm.org/
- Abstract <http://cdli.asm.org/content/19/7/1054.abstract>
- pdf <http://cdli.asm.org/content/19/7/1054.full.pdf+html>
- [Stand: 19.09.2014]
(en) BUTLER CM, WESTERMANN CM, KOEMAN JP, SLOET VAN OLDRUITENBORGH-OOSTERBAAN MM. (2006). The Fell pony immunodeficiency syndrome also occurs in the Netherlands: a review and six cases. Tijdschrift voor Diergeneeskunde 131:114-8
- Abstract <http://www.ncbi.nlm.nih.gov/pubmed/16514970?dopt=Abstract>
- [Stand: 19.09.2014]
(en) GARDNER RB, HART KA, Stokol T, DIVERS TJ, FLAMINIO MJ. (2006). Fell Pony syndrome in a pony in North America. Journal of Veterinary Internal Medicine, 20(1):198-203
- DOI: 10.1111/j.1939-1676.2006.tb02842.x
- Journal of Veterinary Internal Medicine http://onlinelibrary.wiley.com/journal/10.1111/%28ISSN%291939-1676
- Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1939-1676.2006.tb02842.x/abstract>
- Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1939-1676.2006.tb02842.x/pdf>
- [Stand: 19.09.2014]
(en) JELINEK F, FALDYNA M, JASURKOVA-MIKUTOVA G. (2006). Severe combined immunodeficiency in a Fell pony foal. Journal of Veterinary Medicine Series A, 53(2): 69–73
- DOI: 10.1111/j.1439-0442.2006.00779.x
- Journal of Veterinary Medicine Series A http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1439-0442
- Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1439-0442.2006.00779.x/abstract>
- Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1439-0442.2006.00779.x/pdf>
- [Stand: 19.09.2014]
(en) Vetstream definitive veterinary intelligence (Vetstream Equis) ISSN: 1757-8272
- html https://www.vetstream.com/equis/Content/Disease/dis01191
- [Stand: 19.09.2014]
(en) Animal Genetics Inc. (USA), Foal Immunodeficiency Syndrome (FIS)
- html http://www.animalgenetics.us/Equine/Genetic_Disease/FIS.asp
- [Stand: 27.09.2015]
(en) AHT Animal Health Trust, Equine DNA Testing
- html http://www.aht.org.uk/cms-display/genetics_fis.html
- [Stand: 19.09.2014]
(en) Certagen GmbH - DNA tests genetic diseases, FIS, Fell Pony Syndrome
- 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>
- [Stand: 27.09.2015]