Article
Immunological Manifestations in GALE Deficiency: Extending the Spectrum Beyond Thrombocytopenia and Galactosemia.
Journal of clinical immunology - 16 Apr 2026
Kristal Eyal, Khalaila Aya, Asleh Mahdi, Quider Abed Abu, Eshel Yotam David, Mahdi Naim El, Hadad Nurit, Almashanu Shlomo, Miskin Hagit, Staretz-Chacham Orna, Ben-Harosh Miriam
Abstract excerpt
BACKGROUND: Mutations in the UDP-galactose 4’-epimerase (GALE) gene disrupt the Leloir pathway of galactose metabolism and play a key role in protein and lipid glycosylation by providing essential nucleotide sugar donors. While GALE deficiency is known to cause galactosemia and thrombocytopenia, its impact on the human immune system remains largely unexplored. We aimed to characterize a novel immunodeficiency...
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