RESUMEN
Inborn errors of immunity (IEIs) unveil regulatory pathways of human immunity. We describe a new IEI caused by mutations in the GTPase of the immune-associated protein 6 (GIMAP6) gene in patients with infections, lymphoproliferation, autoimmunity, and multiorgan vasculitis. Patients and Gimap6-/- mice show defects in autophagy, redox regulation, and polyunsaturated fatty acid (PUFA)-containing lipids. We find that GIMAP6 complexes with GABARAPL2 and GIMAP7 to regulate GTPase activity. Also, GIMAP6 is induced by IFN-γ and plays a critical role in antibacterial immunity. Finally, we observed that Gimap6-/- mice died prematurely from microangiopathic glomerulosclerosis most likely due to GIMAP6 deficiency in kidney endothelial cells.
Asunto(s)
GTP Fosfohidrolasas , Síndromes de Inmunodeficiencia , Animales , Autofagia , Células Endoteliales/metabolismo , GTP Fosfohidrolasas/genética , GTP Fosfohidrolasas/metabolismo , Humanos , Inflamación , RatonesRESUMEN
OBJECTIVE: To observe the changes of sperm chromatin in patients with oligo-astheno-teratozoospermia (OAT) syndrome after treated by integrated Chinese and Western medicine. METHODS: Sixty patients with OAT syndrome were treated by integrated Chinese and Western medicine for 3 months. Their sperm samples were collected before and after the treatment, subjected to acridine orange staining and analyzed by fluorescent microscopy, flow cytometry and sperm routine detection. RESULTS: Significant differences were shown in the master-group sperm signals (P < 0.01) and at and COMPalphat (P < 0.05) by flow cytometry, as well as in the green and the red groups (P < 0.05) by fluorescent microscopy before and after the treatment. Changes in sperm concentration, motility, vitality and deformity were noted after the treatment, with statistic difference between pre- and post-treatment (P < 0.05) except in forward sperm concentration. CONCLUSION: Treatment by integrated Chinese and Western medicine can improve sperm chromatin in patients with OAT syndrome. Flow cytometry, along with fluorescent microscopy and sperm routine detection, plays an important role in the evaluation of male infertility therapy.