Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare genetic primary immunodeficiency disorder characterized by early-onset recurrent severe bacterial infections granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (i.e. triangular face) short stature failure to thrive hypothyroidism developmental delay pancreatic insufficiency and coarctation of aorta as well as bone and urogenital abnormalities may also be associated.
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Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency?
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