Variant Type X91⁺ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort.

ABSTRACT:

Purpose

We aimed to report the clinical and immunological characteristics of variant type X91⁺ chronic granulomatous disease (CGD) in a Chinese cohort.

Methods

The clinical manifestations and immunological phenotypes of patients with X91⁺ CGD were collected. A dihydrorhodamine (DHR) analysis was performed to evaluate neutrophil function. Gp91^phox protein expression was determined using extracellular staining with the monoclonal antibody (mAb) 7D5 and flow cytometry.

Results

Patients with X91⁺ CGD accounted for 8% (7/85) of all patients with CGD. The median age of onset in the seven patients with X91⁺ CGD was 4 months. Six patients received the BCG vaccine, and 50% (3/6) had probable BCG infections. Mycobacterium t

SUBMITTER: Sun B 

PROVIDER: S-EPMC9674757 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature