Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

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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.

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: // Data version October 2023.

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Advocacy Organizations

Ukrainian Association of Pediatric Immunology

Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.

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Clinical Trials

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