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H752

Cyclic Neutropenia is a stem cell disease, which is characterised by cyclic fluctuations in leukocyte numbers, especially the neutrophils.

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Caractéristiques

Breeds

,

Gene

Chromosome

3

Mutation

c.2401_2402insA

Mode of Inheritance

Autosomique récessif

Organ

Specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Also known as

Cyclic hematopoiesis. Grey/gray collie syndrom

Informations générales

Cyclic Neutropenia is a stem cell disease, which is characterised by cyclic fluctuations in leukocyte numbers, especially the neutrophils.
In dogs the disease is also known as cyclic hematopoiesis or Grey/Gray Collie Syndrom. In humans known as Hermansky-Pudlak Syndrome 2 (HPS-2).

Caractéristiques cliniques

Affected animals have an associated coat colour dilution, causing a gray coat colour. The cyclic neutropenia is associated with symptoms as recurrent fever, anorexia and severe - often life threathening - infections.

Additional Information

Références

Pubmed ID: 12897784

Year published: 2003

Omia ID: 248

Omia variant ID: 580

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