Article
Biallelic STEAP3 Variant in Neonatal Hemophagocytic Lymphohistiocytosis.
Clinical genetics - 1 Jun 2026
Alfalah Abdullah H, Elsaid Mohamed Y, Alrajjal Ahmed, Albokhari Daniah, Khouj Ebtissal, Aziz Afshan, Alfares Ahmed, Maddirevula Sateesh
Abstract excerpt
STEAP3 (Six-transmembrane epithelial antigen of the prostate 3), a metalloreductase, plays a key role in various cell processes, including iron homeostasis, inflammation, and cancer promotion. Over a decade ago, researchers reported a single, heterozygous nonsense variant in STEAP3 linked to transfusion-dependent severe hypochromic anemia. However, a later large population study on STEAP3 found no phenotypic red...
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