Equis ISSN 2398-2977

Immunology: immunodeficiency - Fell pony syndrome

Contributor(s): Cody Coyne, Mark Holmes, Prof Derek Knottenbelt, Nicola Menzies-Gow

Introduction

  • Cause: autosomal recessive inheritance; genetic defect resulting in a mutation in the sodium/myo-inositol cotransporter gene (SLC5A3) on chromosome 26   →    immunodeficiency.
  • Signs: foals <2 months old; insidious onset lethargy, weight loss, opportunistic infections; anemia; diarrhea, nasal discharge and cough are common.
  • Diagnosis: clinical pathology.
  • Treatment: supportive only.
  • Prognosis: hopeless.

Pathogenesis

Etiology

  • Single point mutation on chromosome 26 resulting in a mutation in the sodium/myo-inositol contransporter gene (SLC5A3).
  • Inherited as recessive mutation.

Predisposing factors

General
  • Dam or sire with history of producing affected offspring.

Specific

  • Breed.

Pathophysiology

  • Suspected bone marrow stem cell anomaly   →   :
    • Immunodeficiency   →   opportunistic infections.
    • Anemia.
    • Thymic/lymphoid hypoplasia.

Timecourse

  • 8-10 weeks maximum.

Diagnosis

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Treatment

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Prevention

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Outcomes

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Further Reading

Publications

Refereed papers

  • Recent references from PubMed and VetMedResource.
  • Carter S D, Fox-Clipsham L Y, Christley R & Swinburne J (2013) Foal immunodeficiency syndrome: carrier testing has markedly reduced disease incidence.Vet Rec172(15), 398 PubMed.
  • Tallmadge R Let al(2012)Fell pony syndrome: characterisation of developmental hematopoesis failur eand associated gene expression profiles.Clin Vaccine Immunol19(7), 1054-1064 PubMed.
  • Fox-Clipsham L Yet al(2011)Identification of a mutation associated with fatal Foal Immunodeficiency Syndrome in the Fell and Dales pony.PLoS Gent7(7), e1002133 PubMed.
  • Fox-Clipsham L Y, Brown E E, Carter S D & Swinburne J E (2011)Population screening of endangered horse breeds for the foal immunodeficiency syndrome mutation.Vet Rec169(25), 655 PubMed.
  • Fox-Clipsham Let al(2009)Immunodeficiency/anaemia syndrome in a Dales pony.Vet Rec165(10), 289-290 PubMed.
  • Gardner R B, Hart K A, Stokol T, Divers T J & Flaminio J B F (2006)Fell Pony Syndrome in a pony in North America.J Vet Intern Med20(1), 198-203 PubMed.
  • Thomas G W, Bell S C & Carter S D (2005)Immunoglobulin and peripheral B-lymphocyte concentrations in Fell pony foal syndrome.Equine Vet J37(1), 48-52 PubMed.
  • Thomas G W, Bell S C, Phythian C, Taylor P, Knottenbelt D C & Carter S D (2003)Aid to the antemortem diagnosis of Fell pony foal syndrome by the analysis of B lymphocytes.Vet Rec152(20), 618-621 PubMed.
  • Dixon J Bet al(2000)Discriminant and multiple regression anelysis of anemia and opportunistic infection in Fell Pony foals.Vet Clin Pathol29, 84-86 PubMed.
  • Perryman L E (2000)Primary immunodeficiencies of horses.Vet Clin North Am Equine Pract16(1), 105-116 PubMed.
  • Richards A J Met al(2000)Anemia, diarrhea and opportunistic infections in Fell Ponies.Equine Vet J32, 386-391 PubMed.
  • Young K M & Lunn D P (2000)Immunodiagnostic testing in horses.Vet Clin North Am Equine Pract16(1), 79-103 PubMed.
  • Scholes S F Eet al(1998)A syndrome of anemia, immunodeficiency and peripheral ganglionopathy in Fell pony foals.Vet Rec142, 128-134 PubMed.

Other sources of information

  • Knottenbelt D C (1999)Fell pony syndrome.In:Proc 38th BEVA Congress.pp 71-72.


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