Human CD33 deficiency is associated with mild alteration of circulating white blood cell counts.

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Tác giả: Shahid Abbas, Jirong Bai, Jonathan H Chung, John Dominy, Allan Gurtan, Mohammad Ishaq, Muhammad Jahanzaib, Anjum Jalal, Shareef Khalid, Christopher Koch, Muhammad Bilal Liaqat, Lulu Liu, Fazal Rehman Memon, Muhammad Rehan Mian, Madhura Panditrao, Asif Rasheed, Syed Shahzaib Raza, Muhammad Hamid Saeed, Danish Saleheen, Kashif Saleheen, Riffat Sultana, Maleeha Zaman Khan, Qi Zhang

Ngôn ngữ: eng

Ký hiệu phân loại: 785.13 *Trios

Thông tin xuất bản: United States : PLoS genetics , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 722827

The single pass transmembrane protein CD33 is enriched in phagocytic and hematopoietic cell types, such as monocytes. CD33 is thought to be associated with immune cell function, susceptibility to Alzheimer's disease, and rare leukemias. Antagonism or genetic ablation of CD33 has been proposed to treat Alzheimer's disease, hematological cancers, and as a selection mechanism for enriching genetically altered blood cells. To understand the impact of chronic CD33 loss or ablation, we describe individuals who we confirmed to be missing CD33 due to germline loss of function variants. Through PheWAS-based approaches using existing whole exome biobanks and bespoke phenotyping using recall-by-genotype (RBG) studies, we show that CD33 loss of function alters circulating white blood cell counts and distributions, albeit mildly and with no overt clinical pathology. These findings indicate that chronic CD33 antagonism/ablation is likely to be safe in humans.
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