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Severe congenital neutropenia (SCN) is a rare disease, comprising a heterogeneous group of inherited disorders. Clinical features include reduced absolute neutrophil counts from birth, increased susceptibility to recurrent and life-threatening infections, and a pre-leukemic predisposition.[1][1]

haematologica

A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities