在耐火性自身免疫性细胞衰退中意外诊断出WHIM综合征

Yolanda Garcia-Carmona1,2,3, Jose Chavez1,2, Yael Gernez4

  • 1Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.

Blood advances
|July 19, 2024
PubMed
概括

WHIM综合症是一种原发性免疫缺陷,可能源于CXCR4基因突变. 一种新奇的突变导致了两名患者的终身自身免疫和淋巴细胞缩,影响了受体功能.