MinireviewClinical, Molecular, and Cell Biological Aspects of Chediak–Higashi Syndrome
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2021, Biomedical JournalCitation Excerpt :Similar functions are exerted by the LRBA protein homologue LYST (lysosomal trafficking regulator) [61]. Biallelic mutations in LYST cause a PID known as Chediak-Higashi syndrome (CHS) [62], which in contrast to LRBA deficiency does not present with immune dysregulation features, suggesting that LRBA and LYST act in different vesicle trafficking pathways with cellular specificity. Therefore, protein compensation by other LRBA homologues in LRBA-deficient patients with less severe clinical phenotype might be interesting to address.
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