Slc7a7 mutation causing Hemophagocytic Lymphohistiocytosis: a case report
Release date:
2025-09-07
Description:
Hemophagocytic syndromes (HLH) caused by mutations in the slc7a7 gene are known to be either pure synonymous mutations or compound mutations on both alleles, and there are few case reports of HLH caused by Slc7a7 shifted-code mutations. Here, we collected data from a patient with HLH who was admitted to the ICU and whose whole-exome sequencing showed a slc7a7 shifted-code mutation on one allele. We used the remaining samples from the blood clinical tests, extracted the pbmc for single-cell sequencing, and collected the patient's clinical data to explore the correlation between the one allele mutation of Slc7a7 and hemophagocytic syndrome, which will facilitate the subsequent study of the molecular mechanism.
Organization: First Affiliated Hospital, Zhejiang University
Submission date: 2023-09-07
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