Disease overview

Cyclic Neutropenia is a disease characterized by oscillating cycles of low to normal numbers of neutrophils. Neutrophils are a type of white blood cells and the first line of defense against infections. These cycles last approximately two weeks.

Gene name

AP3B1

Inheritance

Complex

Signs and symptoms

Clinical signs of this disease vary. Some affected puppies do not mature properly or die within a few days of birth. If affected dogs live into adulthood, they are more susceptible to infection during low neutrophil count weeks. Signs of reduced immune function may include diarrhea, fever, inflamed lymph nodes, lameness, and abnormal bleeding. Affected dogs tend to have a grey coat.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Blood work and other lab tests will likely be needed for diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Benson KF, Li FQ, Person RE, Albani D, Duan Z, Wechsler J, Meade-White K, Williams K, Acland GM, Niemeyer G, Lothrop CD, Horwitz M. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet. 2003 Sep;35(1):90-6. doi: 10.1038/ng1224. Epub 2003 Aug 3. PMID: 12897784. Benson KF, Person RE, Li FQ, Williams K, Horwitz M. Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia. Nucleic Acids Res. 2004 Dec 1;32(21):6327-33. doi: 10.1093/nar/gkh974. PMID: 15576359; PMCID: PMC535682. Dale DC, Alling DW, Wolff SM. Cyclic hematopoiesis: the mechanism of cyclic neutropenia in grey collie dogs. J Clin Invest. 1972 Aug;51(8):2197-204. doi: 10.1172/JCI107027. PMID: 5054472; PMCID: PMC292377.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.