Qiongqiong Su

Novel CTLA4 Haploinsufficiency with Pure Red Cell Aplasia as the Core Manifestation: Insights from a Sibling Pair with Divergent Tumorigenic Outcomes

Cytotoxic T‑lymphocyte antigen‑4 (CTLA4) is a key immune checkpoint molecule, and its haploinsufficiency can lead to a highly heterogeneous immune dysregulation syndrome; however, its association with pure red cell aplasia (PRCA) remains to be systematically characterized. Here w...