Murphy Philip M
Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Neuron. 2025 Aug 20;113(16):2547-2549. doi: 10.1016/j.neuron.2025.07.027.
Distinguishing direct from indirect mechanisms is often difficult in multisystem genetic conditions. In this issue of Neuron, Demenego et al. report that cerebellar malformation and dysfunction in WHIM syndrome immunodeficiency result from direct effects of hyperfunctional CXCR4 in neurons.
在多系统遗传疾病中,区分直接机制和间接机制往往很困难。在本期《神经元》杂志中,德梅内戈等人报告称,WHIM综合征免疫缺陷中的小脑畸形和功能障碍是由神经元中功能亢进的CXCR4的直接作用导致的。