Autosomal dominant severe congenital neutropenia

Orpha code: 486OMIM code: 613107

Definition

A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.

Disease data
Classification

Disease

ORPHA code
486
OMIM code
613107
ICD10 code
D70
ICD11 code
4B00.00

No additional description.

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