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We observed a syndrome characterized by recurrent fever, severe anemia, gastrointestinal symptoms, and a spectrum of immunologic and neurologic symptoms in five children from four unrelated families. Neurologic manifestations ranged from mild developmental delay to nystagmus, spasticity, optic nerve atrophy, and sensorineural hearing loss. Sideroblastic anemia was identified by bone marrow biopsies in two of the children.

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency