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

This article is available in full to registered subscribers

Sign up now to purchase a 30 day trial, or Login

Treatment

This article is available in full to registered subscribers

Sign up now to purchase a 30 day trial, or Login

Prevention

This article is available in full to registered subscribers

Sign up now to purchase a 30 day trial, or Login

Outcomes

This article is available in full to registered subscribers

Sign up now to purchase a 30 day trial, or Login

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 Rec 172 (15), 398 PubMed.
  • Tallmadge R L et al (2012) Fell pony syndrome: characterisation of developmental hematopoesis failur eand associated gene expression profiles. Clin Vaccine Immunol 19 (7), 1054-1064 PubMed.
  • Fox-Clipsham L Y et al (2011) Identification of a mutation associated with fatal Foal Immunodeficiency Syndrome in the Fell and Dales pony. PLoS Gent (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 Rec 169 (25), 655 PubMed.
  • Fox-Clipsham L et al (2009) Immunodeficiency/anaemia syndrome in a Dales pony. Vet Rec 165 (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 Med 20 (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 J 37 (1), 48-52 PubMed.
  • Thomas G W, Bell S C, Phythian C et al (2003) Aid to the antemortem diagnosis of Fell pony foal syndrome by the analysis of B lymphocytes. Vet Rec 152 (20), 618-621 PubMed.
  • Dixon J B et al (2000) Discriminant and multiple regression anelysis of anemia and opportunistic infection in Fell Pony foals. Vet Clin Pathol 29, 84-86 PubMed.
  • Perryman L E (2000) Primary immunodeficiencies of horses. Vet Clin North Am Equine Pract 16(1), 105-116 PubMed.
  • Richards A J M et al (2000) Anemia, diarrhea and opportunistic infections in Fell Ponies. Equine Vet J 32, 386-391 PubMed.
  • Young K M & Lunn D P (2000) Immunodiagnostic testing in horses. Vet Clin North Am Equine Pract 16 (1), 79-103 PubMed.
  • Scholes S F E et al (1998) A syndrome of anemia, immunodeficiency and peripheral ganglionopathy in Fell pony foals. Vet Rec 142, 128-134 PubMed.

Other sources of information

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


ADDED