Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

Disease Export to PDF
Name:
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Description:
A rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.
ORPHAcode:
420699
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14