Cyclic Hematopoiesis (Grey Collie Syndrome)

 

Gene: AP3B1

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Insertion, AP3B1 gene; c.2401_2402 ins.A, p.(T803N fs STOP 5)

Medical system: Blood

Breeds: Collie, Collie - Rough, Collie - Smooth

Age of onset of symptoms: From birth

Cyclic Hematopoiesis is an inherited blood and immune system disease reported in the Collie.  Neutrophils are a type of white blood cell important for combating bacterial infections.  In cyclic hematopoiesis, the number of neutrophils in the blood cycles from normal to almost none over about a two-week period.  Affected puppies have a gray hypopigmented coat, hence the name “Grey Collie Syndrome”.  They become vulnerable to bacterial infections during a period of low neutrophil count and may have highly variable clinical signs including fever, diarrhea, inflammation of the lymph nodes, gingivitis, general weakness and bleeding.  Affected puppies commonly die within days of birth.  If they survive, they will remain small and weak and will die before reaching 2 years old due to renal or hepatic insufficiency.

 

References:

OMIA link: [0248-9615]

Lee GKC, Barbosa C, Andersen G, et al. (2022) Cyclic hematopoiesis in a mixed-breed dog: case report and brief review. J Vet Diagn Invest 34:1006-1009.  [pubmed/35904319]

Hostetter SJ. (2012) Neutrophil function in small animals. Vet Clin North Am Small Anim Pract 42:157-71.  [pubmed/22285163]

Meng R, Bridgman R, Toivio-Kinnucan M, et al. (2010) Neutrophil elastase-processing defect in cyclic hematopoietic dogs.  Exp Hematol. 38(2):104-15. [pubmed/19941936]

Benson KF, Li FQ, Person RE, Albani D, et al. (2003) Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nature Genetics 35(1):90-96. [pubmed/12897784]