Foal Immunodeficiency Syndrome (FIS)

Inhalt

Synonym (en)

Fell Pony syndrome

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

 Syndrome d’immunodéficience du poulain

Gen

SLC5A3 (solute carrier family 5 (sodium/myo-inositol cotransporter), member 3)
Chromosom ECA26

OMIA#

OMIA 001578-9796

http://omia.angis.org.au/OMIA001578/9796/

NCBI gene

http://www.ncbi.nlm.nih.gov/gene/100052070

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.

(Fox-Clipsham LY et al, 2011b)

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%

(Fox-Clipsham LY et al, 2011b)
Gründer --
DNA-Test

JA (Animal Genetics US, AHT, CAG, Certagen, LABOKLIN, VHL)
Bemerkungen

Primäre Immundefizienzen sind genetisch fixierte Dysregulationskrankheiten des Immunsystems. Nachfolgend sind die beim Pferd identifizierten primären Immundefekte aufgelistet:

LITERATURVERZEICHNIS

Wissenschaftliche Veröffentlichungen

2015

(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]

2014

(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]

2013

(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]

2011

(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]

2010

(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]

2006

(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]

Webseiten

(en) Vetstream definitive veterinary intelligence (Vetstream Equis) ISSN: 1757-8272

Labore für DNA-Analytik

(en) Animal Genetics Inc. (USA), Foal Immunodeficiency Syndrome (FIS)

(en) AHT Animal Health Trust, Equine DNA Testing

(en) CAG GmbH - Center for Animal Genetics, Foal Immunodeficiency Syndrome (FIS)

(en) Certagen GmbH - DNA tests genetic diseases, FIS, Fell Pony Syndrome

(de) LABOKLIN, Erbkrankheiten Pferd, Foal Immunodeficiency Syndrome (FIS)

(en) VHL, Van Haeringen Group, P839 Foal Immunodeficiency Syndrome

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