Difference between revisions of "Equine Severe Combined Immune Deficiency"

Revision as of 17:41, 24 August 2010

((Equine SCID)

Description

Severe combined immunodeficiency disease (SCID) of horses is an autosomal, recessive hereditary disease occurring in 2-3% of Arab or cross-bred Arab foals. About 16-25% of Arabian horses are carriers of the disease. SCID is characterised by a complete absence of functional B and T lymphocytes and affected (homozygous) foals fail to produce antigen-specific immune responses. The disease results in the absence of a functional immune system and affected foals are unable to resist or recover from infections. In

Signalment

Only Arab or cross-bred Arabs are affected. No sex predilection has been reported.

Pathogenesis

SCID occurs due to a mutation in the allele encoding for DNA-dependent protein kinase (DNA-PK) that is involved in V(D)J lymphocyte recombination. V(D)J recombination is required for antigenic receptor expression on B and T lymphocytes. Without these receptors, differentiation of B and T lymphocytes does not occur and lymphoid tissue fails to develop. The result of this mutation is a complete is a severe immunodeficiency.

Clinical signs

Affected foals are clinically normal at birth and usually develop infections at around two to three months of age due to declining maternal antibodies in the colostrum. The most common clinical signs relate to infections of the respiratory tract such as nasal discharge, cough, dyspnoea or increased respiratory sounds. Other clinical signs include intermittent fever, pneumonia, weight loss and diarrhoea.

Diagnosis

The diagnosis of SCID is based on three criteria; a) persistent lymphopaenia with less than 1000 lymphocytes per ml, b) lack of serum IgM in foals over four weeks of age and c) lymphoid hypoplasia. Diagnosis is often difficult and post mortem examination may be required. Post mortem findings of a small thymus and/or absent lymph nodes combined with the presence of opportunistic infections support a diagnosis of SCID. Histologically, lymph node follicles and germinal centres are absent.

References

McClure, J. T. (1997) New Developments in Severe Combined Immunodeficiency Disease Proceedings of the Annual Convention of the AAEP (43) pp61-64

@@ Line 4: / Line 4: @@
 ==Description==
-Severe combined immunodeficiency disease (SCID) of horses is an autosomal, recessive hereditary disease occurring in 2-3% of Arab or cross-bred Arab foals. About 16-25% of Arabian horses are carriers of the disease. SCID is characterised by a complete absence of functional B and T lymphocytes and affected (homozygous) foals fail to produce antigen-specific immune responses. The disease results in the absence of a functional immune system and affected foals are unable to resist or recover from infections.
+Severe combined immunodeficiency disease (SCID) of horses is an autosomal, recessive hereditary disease occurring in 2-3% of Arab or cross-bred Arab foals. About 16-25% of Arabian horses are carriers of the disease. SCID is characterised by a complete absence of functional B and T lymphocytes and affected (homozygous) foals fail to produce antigen-specific immune responses. The disease results in the absence of a functional immune system and affected foals are unable to resist or recover from infections. In
 ==Signalment==
@@ Line 13: / Line 13: @@
 ==Clinical signs==
+Affected foals are clinically normal at birth and usually develop infections at around two to three months of age due to declining maternal antibodies in the colostrum. The most common clinical signs relate to infections of the respiratory tract such as nasal discharge, cough, dyspnoea or increased respiratory sounds. Other clinical signs include intermittent fever, pneumonia, weight loss and diarrhoea.
+==Diagnosis==
+The diagnosis of SCID is based on three criteria; a) persistent lymphopaenia with less than 1000 lymphocytes per ml, b) lack of serum IgM in foals over four weeks of age and c) lymphoid hypoplasia. Diagnosis is often difficult and post mortem examination may be required. Post mortem findings of a small thymus  and/or absent lymph nodes combined with the presence of opportunistic infections support a diagnosis of SCID. Histologically, lymph node follicles and germinal centres are absent.
+==References==
+*McClure, J. T. (1997) '''New Developments in Severe Combined Immunodeficiency Disease''' ''Proceedings of the Annual Convention of the AAEP (43) pp61-64''
-Affected foals are clinically normal at birth and usually develop infections at around two to three months of age due to declining maternal antibodies in the colostrum. The most common clinical signs relate to infections of the respiratory tract such as nasal discharge, cough, dyspnoea or increased respiratory sounds.
-*Foals usually die from bronchopneumonia
 [[Category:Primary Adaptive Immunity Deficiencies]]
 [[Category:To Do - Blood]][[Category:To Do - SophieIgnarski]]
 [[Category:Horse]]