Asako Takanohashi

The paper identifies six patients with biallelic IRAK4 variants causing severe neurological autoinflammation without immunodeficiency, expanding the known phenotype of IRAK4-related disease.

This study shows that deleting TUBB4A in human iPSCs reduces cell-autonomous deficits in oligodendrocytes and neurons associated with H-ABC, suggesting it could be a therapeutic strategy for TUBB4A-related leukodystrophy.

This study shows that suppressing Tubb4a with an ASO improves symptoms and extends lifespan in a mouse model of H-ABC leukodystrophy.