Rapid flow cytometric diagnosis of XIAP deficiency.

ABSTRACT:

Introduction

X-linked inhibitor of apoptosis protein (XIAP) deficiency is an inborn error of immunity caused by pathogenic variants of XIAP. It presents diverse symptoms, including recurrent hemophagocytic lymphohistiocytosis and inflammatory bowel disease. Previous reports established a functional analysis method that quantitatively evaluates intracellular tumor necrosis factor-alpha (TNF-α) production capacity following muramyl dipeptide (MDP) stimulation using flow cytometry (MDP-flow TNF-α) for assessing XIAP deficiency. However, this method required 2 days to obtain results, which is a limitation.

Method

We established a method to measure the downregulation of L-selectin (CD62L) on the cell surface after MDP stimulation of monocytes and neutrophils from patients with XI

SUBMITTER: Wakatsuki R 

PROVIDER: S-EPMC12817240 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature