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Neutropenia
- ... have been identified in people with poikiloderma with neutropenia (PN). This condition involves a group of skin ... and a persistent shortage (deficiency) of neutrophils (chronic neutropenia).The USB1 gene mutations that cause PN are ...
- ... ELANE gene have been found to cause cyclic neutropenia, a condition characterized by episodes of neutrophil shortages (neutropenia) and increased risk of infection. ELANE gene mutations ...
- ... gene have been found to cause severe congenital neutropenia, a condition characterized by a shortage (deficiency) of ... Most of the mutations that cause severe congenital neutropenia change single protein building blocks (amino acids) in ...
- ... and seizures; a shortage of white blood cells (neutropenia), which can increase the risk of infections; and ... associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. ...
- ... Aldrich syndrome, X-linked thrombocytopenia, and severe congenital neutropenia are sometimes collectively referred to as WAS-related ... Condition MedlinePlus Genetics provides information about Severe congenital neutropenia More About This Health Condition IMD2 WASP WASP_ ...
- ... also cause a shortage of white blood cells (neutropenia) in people with GSDIb. More About This Health ... Gene ClinVar Chou JY, Jun HS, Mansfield BC. Neutropenia in type Ib glycogen storage disease. Curr Opin ...
- ... FM, Wanders RJ. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet ...
- ... Condition MedlinePlus Genetics provides information about Severe congenital neutropenia More About This Health Condition Atp6i ATP6N1C ATP6V0A3 ...