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Neutrophil immunodeficiency syndrome
Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.
ORPHA:183707Classification level: Disorder
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Unknown
- Age of onset: Infancy, Neonatal
- ICD-10: D71
- OMIM: 608203
- UMLS: C1842398
- MeSH: -
- GARD: -
- MedDRA: -
Prevalence is unknown but, to date, two cases have been reported.
Neutrophil immunodeficiency syndrome presents as similar to leukocyte-adhesion deficiency (LAD; see this term), however there is no evidence of deficiency in the CD11b/CD18 complex.
The disease is due to a point dominant negative mutation in the RAC2 gene causing decreased Rac2 protein expression and a defect in a signaling pathway controlling shape change/motility of neutrophils as well as assembly and activation of NADPH oxidase.
The mode of transmission is unknown.