Genomic variant analysis and clinical characteristics analysis of 7 patients with HIV-negative Talaromyces marneffei infection
Objective To analyze the non-synonymous single nucleotide variations(nsSNV)and their clinical characteristics in human immunodeficiency virus(HIV)-negative patients with Talaromyces marneffei infection,which to provide new ideas for clinical diagnosis.Methods The blood samples and clinical data of HIV-negative patients with T.marneffei infection admitted to the Department of Infectious Diseases of Shenzhen Third People's Hospital from January 2018 to July 2021 were collected.Whole exome sequencing was used to analyze the mutations of antifungal related genes in the genome,and the clinical characteristics of patients with single nucleotide mutations and those without mutations were compared.Results Among the 7 patients,4 patients(57.14％)had different gene mutations.Patient 1 carried a heterozygous mutation in STAT1 gene(c.G1053T,p.L351F),and patient 2 carried a heterozygous mutation in JAK2 gene(c.C1144T,p.H382Y),Patient 3 had a heterozygous mutation in TYK2 gene(c.G2102C,p.R701T),and patient 5 had a heterozygous mutation in ARIE gene(c.C1634T,p.S545F).Through genetic variation analysis and database comparison,the above gene mutations might lead to clinically pathogenic.There was no significant difference in the clinical characteristics and laboratory test results between the patients with single nucleotide mutations and those without mutations.Conclusions There were possible pathogenic gene mutations in HIV-negative patients with T.marneffei infection,but it was difficult to identify whether the patients had primary immunodeficiency according to their clinical characteristics.Therefore,it should be necessary to strengthen the detection of gene mutations in these patients and optimize the treatment plan to slow the progression of the disease.
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