Multicenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome.

ABSTRACT:

Purpose

WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a rare disease, caused by CXCR4 gene mutations, which incorporates features of combined immunodeficiency, congenital neutropenia, and a predisposition to human papillomavirus infection. Established conventional treatment for WHIM syndrome does not fully prevent infectious complications in these patients. Only single case reports of hematopoietic stem cell transplantation (HSCT) efficacy in WHIM have been published.

Methods

To summarize current information on HSCT efficacy in disease treatment, seven pediatric patients with WHIM syndrome who underwent allogeneic HSCT were identified in five centers worldwide.

Results

All patients presented early after birth with neutropenia. Two of s

SUBMITTER: Laberko A 

PROVIDER: S-EPMC8821066 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature