Objective To investigate the changes of phenotypes and function of CD56+T cells during primary HIV-1 infection and their relationship with disease progression.Methods Peripheral blood mononuclear cells (PBMCs) were collected from 53 subjects with primary HIV-1 infection and 31 HIV-1-negative healthy subjects.The percentages of CD56+T cells and the expression of several phenotypic markers on CD56+T cells including CD16, CD161, NKB1, NKG2A, NKp46, NKG2D, NKG2C and CD158a were analyzed by flow cytometry.IFN-γand TNF-αreleased by CD56+T cells with and without K562 stimulation and the levels of cytotoxic molecular CD107a were measured.Results The percentages of CD56+T cells in patients with primary HIV-1 infection were significantly lower than those of healthy subjects (P=0.025). The levels of CD56+T cells were negatively related to the viral loads in plasma samples ( P=0.021, r=-0.316).Compared with healthy subjects, the expression of CD16 (P=0.003), CD161 (P=0.023), NKB1 (P=0.023) and NKp46 (P=0.021) on CD56+T cells were decreased in patients with primary HIV-1 infection.The levels of NKB1 were positively related to the CD4+T cell counts ( P=0.007, r=0.364), but were negatively related to the viral loads in plasma samples (P=0.030, r=-0.299).Sponta-neous secretion of IFN-γand TNF-αby CD56+T cells and the expression of CD107a were dramatically in-hibited in patients with primary HIV-1 infection as compared with healthy subjects ( all P<0.001 ) . Moreover, the killing ability of CD56+T cells against K562 target cells was weakened in patients with prima-ry HIV-1 infection as the levels of IFN-γ-, TNF-α-and CD107a-producting CD56+T cells were significantly decreased (P<0.001 for IFN-γand TNF-α, P=0.016 for CD107a).Conclusion Inhibited expression and altered phenotypes of CD56+T cells were identified during primary HIV-1 infection.Lower levels of cy-tokines and cytotoxic molecular were also detected, indicating the dysfunction of CD56+T cells appeared dur-ing early stage of HIV-1 infection and was associated with disease progression.

Objective: To explore susceptibility genes for autism spectrum disorders (ASD). Methods: Whole-exome sequencing was carried out for 60 family trios affected with sporadic ASD. Genetic variants discovered in over 10% of the patients were selected for genotype-phenotype correlation and pathway enrichment analysis using Phenolyzer software and metascape database. Combining gene-phenotypic scores, pathway-related genes associated with neural and neurite triggering were screened for the candidates. Results: A total of 170 common variants were found to be associated with the ASD phenotype. Among these, there was only one high-confidence gene [SHANK2 (0.8146)] and four medium-confidence genes [ERBB2 (0.1322), LAMC3 (0.1117), PPFIA4 (0.1059), DISC1 (0.1002)]. Twenty-pathways and four biological processes were found to be statistically significant by pathway enrichment analysis, which included neuron projection morphogenesis (GO: 0048812), regulation of neuroblast proliferation (GO: 1902692), modulation of excitatory postsynaptic potential (GO: 0098815), and dendrite morphogenesis (GO: 0048813). Twenty-one genes were found to be closely associated with neurological and neurite triggering, among which only SHANK2, ERBB2, and DISC1 had above-medium confidence correlation scores with the ASD phenotypes. Conclusion Abnormal neuron projection morphogenesis (GO: 0048812) may be closely related to the occurrence of ASD. SHANK2, ERBB2, and DISC1 are susceptibility genes for ASD.