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©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
Potential protein–phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients
Wen-Juan Tang, Wen-Hui Hu, Ying Huang, Bing-Bing Wu, Xiao-Min Peng, Xiao-Wen Zhai, Xiao-Wen Qian, Zi-Qing Ye, Hai-Jiao Xia, Jie Wu, Jie-Ru Shi
Wen-Juan Tang, Wen-Hui Hu, Ying Huang, Zi-Qing Ye, Hai-Jiao Xia, Jie Wu, Jie-Ru Shi, Department of Gastroenterology, Pediatric Inflammatory Bowel Disease Research Center, Children’s Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China
Bing-Bing Wu, Xiao-Min Peng, The Molecular Genetic Diagnosis Center, Children's Hospital of Fudan University, Shanghai 201102, China
Xiao-Wen Zhai, Xiao-Wen Qian, Department of Hematology Oncology, Children's Hospital of Fudan university, National Children's Medical Center, Shanghai 201102, China
Author contributions: Tang WJ and Hu WH contributed equally to this manuscript; Huang Y, Zhai XW, and Qian XW designed the research study; Tang WJ and Hu WH performed the research and contributed to analysis of the data; Tang WJ wrote the manuscript; Wu BB and Peng XM contributed analytic tools; Ye ZQ, Xia HJ, Shi JR, and Wu J contributed to acquisition of the data; all authors have read and approved the final manuscript.
Institutional review board statement: The study was reviewed and approved by the research ethics committee at the Children's Hospital of Fudan University (2015-130).
Informed consent statement: Informed consent for participation were obtained from the parents.
Conflict-of-interest statement: There are no conflicts of interest to report.
Data sharing statement: No additional data are available.
STROBE statement: The authors have read the STROBE Statement, and the manuscript was prepared and revised according to the STROBE Statement.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
http://creativecommons.org/Licenses/by-nc/4.0/ Corresponding author: Ying Huang, MD, PhD, Chief Doctor, Professor, Department of Gastroenterology, Pediatric Inflammatory Bowel Disease Research Center, Children’s Hospital of Fudan University, National Children's Medical Center, No. 399 Wanyuan Road, Shanghai 201102, China. yhuang2019@126.com
Received: February 3, 2021
Peer-review started: February 3, 2021
First decision: March 14, 2021
Revised: March 22, 2021
Accepted: May 26, 2021
Article in press: May 26, 2021
Published online: July 26, 2021
ARTICLE HIGHLIGHTS
Research background
Patients with lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency have a variety of clinical symptoms, and most patients present with severe clinical symptoms. However, it seems that there is no apparent genotype–phenotype correlation for LRBA deficiency. Therefore, it is not easy for doctors to make a decision regarding hematopoietic stem cell transplantation (HSCT) for LRBA-deficient patients. Therefore, we studied the protein–phenotype correlation in three LRBA-deficient patients and found that the lack of LRBA protein expression may indicate worse disease outcomes and be an indicator for HSCT.
Research motivation
The main motivation of this study was to study the protein–phenotype correlation in LRBA-deficient patients. The key problem to be solved is as follows: A lack of LRBA protein expression may indicate worse disease outcomes and be an indicator for HSCT.
Research objectives
The aim of this study was to identify potential protein–phenotype correlations in LRBA-deficient patients and look for indicators for HSCT. We hope that this study can provide some beneficial information to doctors regarding when HSCT should be considered in LRBA-deficient patients.
Research methods
Whole-exome sequencing was adapted for genetic analysis in three LRBA-deficient patients, and their clinical data were analyzed. Protein was extracted from peripheral blood mononuclear cells of the three patients and their parents. Western blot was performed for protein analysis. Relative LRBA protein expression was determined for every patient and compared with the controls. Data are presented as the mean ± SD, and a t-test was used to analyze the differences. P < 0.05 was considered statistically significant.
Research results
The results showed that there may be a protein–phenotype correlation in LRBA deficiency, and residual LRBA protein expression may be associated with disease outcome and could be an indicator for HSCT. However, there are limitations to this study, and we need to collect more data in the future to strengthen our findings.
Research conclusions
There may be a protein–phenotype correlation in LRBA deficiency, and residual LRBA protein expression may be associated with disease outcome and can be an indicator of HSCT.
Research perspectives
In the future, we will collect more data from LRBA-deficient patients. It would be better to analyze the LRBA protein level by flow cytometry and compare the level among patients.
