severe congenital neutropenia 8

An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2.

Signs and symptoms

• Bone marrow arrest at the promyelocytic stage
• Autistic behavior
• Decreased total neutrophil count
• Short stature
• Exocrine pancreatic insufficiency
• Feeding difficulties in infancy
• Global developmental delay
• Steatorrhea
• Elevated circulating hepatic transaminase concentration
• Abnormal circulating immunoglobulin concentration

Also known as: SCN8; SDSL; Shwachman-Diamond syndrome-like; autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities