Published online Jul 26, 2021. doi: 10.12998/wjcc.v9.i21.5873
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
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.
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.
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.
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.
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.
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.
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.