Severe pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy

• Main Authors: Francesca Di Sario (Author), Francesca Piloni (Author), Francesco Gasparini (Author), Eleonora Serpetti (Author), Barbara Bruschi (Author), Paola Coccia (Author), Maria Elena Lionetti (Author), Simona Gatti (Author)
• Format: Book
• Published: BMC, 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by megaloblastic anemia due to selective cobalamin malabsorption and benign proteinuria. IGS is caused by a disfunction of the cubam receptor, which mediates the reabsorption of cobalamin in t...