Article
HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).
British journal of haematology - 1 Jul 2023
Pogozhykh Denys, Yilmaz Karapinar Deniz, Klimiankou Maksim, Gerschmann Natali, Ebetsberger-Dachs Georg, Palmblad Jan, Carlsson Göran, Masmas Tania, Kinsey Sally, Bartels Marije, Mellor-Heineke Sabine, Welte Karl, Skokowa Julia, Zeidler Cornelia
Abstract excerpt
HAX1-related congenital neutropenia (HAX1-CN) is a rare autosomal recessive disorder caused by pathogenic variants in the HAX1 gene. HAX1-CN patients suffer from bone marrow failure as assessed by a maturation arrest of the myelopoiesis revealing persistent severe neutropenia from birth. The disorder is strongly associated with severe bacterial infections and a high risk of developing myelodysplastic syndrome or...
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