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. 2024 May 22:15:1349919.
doi: 10.3389/fimmu.2024.1349919. eCollection 2024.

Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review

Yufan Xiao  1   2 , Nandi Wang  1 , Xinghao Jin  1 , Anna Liu  1 , Zhiyong Zhang  1   3   4   5   6
Affiliations

Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review

Yufan Xiao et al. Front Immunol. .

Abstract

Introduction: According to the PRISMA criteria, a systematic review has been conducted to investigate the clinical relevance between patients with severe congenital neutropenia (SCN) and cyclic congenital neutropenia (CyN) induced by ELANE mutations.

Methods: We have searched PubMed, EMBASE, Web of Science, Scopus, Cochrane, CNKI, Wanfang Medicine, and VIP for ELANE mutation related literature published from 1997 to 2022. Using Microsoft Excel collect and organize data, SPSS 25, GraphPad Prism 8.0.1, and Omap analyze and plot statistical. Compare the gender, age, geography, mutation sites, infection characteristics, treatment, and other factors of SCN and CyN patients induced by ELANE mutations, with a focus on exploring the relationship between genotype and clinical characteristics, genotype and prognosis.

Results: This study has included a total of 467 patients with SCN and 90 patients with CyN. The onset age of SCN and CyN are both less than 1 year old, and the onset and diagnosis age of SCN are both younger than CyN. The mutation of ELANE gene is mainly missense mutation, and hot spot mutations include S126L, P139L, G214R, c.597+1G>A. The high-frequency mutations with severe outcomes are A57V, L121H, L121P, c.597+1G>A, c.597+1G>T, S126L, C151Y, C151S, G214R, C223X. Respiratory tract, skin and mucosa are the most common infection sites, Staphylococcus aureus, Pseudomonas aeruginosa and Escherichia coli are the most common.

Discussion: Patients with refractory G-CSF are more likely to develop severe outcomes. The commonly used pre-treatment schemes for transplantation are Bu-Cy-ATG and Flu-Bu-ATG. The prognosis of transplantation is mostly good, but the risk of GVHD is high.

Systematic review registration: https://www.crd.york.ac.uk/PROSPERO/. PROSPERO, identifier CRD42023434656.

Keywords: ELANE; congenital neutropenia; cyclic congenital neutropenia; primary immunodeficiency disease; severe congenital neutropenia.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
PRISMA flow diagram. This is inclusion and exclusion flowchart used PRISMA criteria. PRISMA, Preferred Reporting Items for Systematic Reviews and Meta-Analyses.
Figure 2
Figure 2
Clinical features of ELANE gene mutations in SCN and CyN patients. SCN, severe congenital neutropenia; CyN, cyclic congenital neutropenia.
Figure 3
Figure 3
Pathogen distribution of ELANE gene mutations in SCN and CyN patients. SCN, severe congenital neutropenia; CyN, cyclic congenital neutropenia.
Figure 4
Figure 4
Distribution map of ELANE gene mutations. (A) Distribution map of ELANE gene mutations in SCN patients. (B) Distribution map of ELANE gene mutations in CyN patients. SCN, severe congenital neutropenia; CyN, cyclic congenital neutropenia.
See this image and copyright information in PMC

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