Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.

ABSTRACT:

Background

WHIM syndrome (WS), a rare congenital neutropenia due to mutations of the CXCR4 chemokine receptor, is associated with Human Papillomavirus (HPV)-induced Warts, Hypogammaglobulinemia, bacterial Infections and Myelokathexis. The long term follow up of eight patients highlights the clinical heterogeneity of this disease as well as the main therapeutic approaches and remaining challenges in the light of the recent development of new CXCR4 inhibitors.

Objective

This study aims to describe the natural history of WS based on a French cohort of 8 patients.

Methods

We have reviewed the clinical, biological and immunological features of patients with WS enrolled into the French Severe Chronic Neutropenia Registry.

Results

We identified four pedigrees with WS

SUBMITTER: Beaussant Cohen S 

PROVIDER: S-EPMC3585856 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature