Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

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Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency?

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Clinical Trials

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