Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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