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Cyclic neutropenia

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Disease definition

A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.

ORPHA:2686

Classification level: Disorder

Prevalence: 1-9 / 1 000 000

Inheritance: Autosomal dominant

Age of onset: All ages

ICD-10: D70

ICD-11: 4B00.00

OMIM: 162800

UMLS: C0221023

MeSH: C536227

GARD: 6229

MedDRA: 10053176

A summary on this disease is available in Español (2020) Deutsch (2020) Italiano (2020) Nederlands (2020)
Detailed information
Guidelines
Emergency guidelines
Français (2009.pdf) - Orphanet Urgences
Deutsch (2009.pdf) - Orphanet Urgences
Español (2009.pdf) - Orphanet Urgences
Italiano (2012.pdf) - Orphanet Urgences
Clinical practice guidelines
Disease review articles
Review article
English (2011) - Orphanet J Rare Dis
Clinical genetics review
English (2018) - GeneReviews

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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