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Infantile LAD-like disease due to RAC2 deficiency

ORPHA:183707· ICD-10 D71

Definition

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.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Infancy, Neonatal