ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
Disease: Dysplasia of anus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0347129
Disease: Dysplasia of anus
Dysplasia of anus 		0.010 AlteredExpression disease BEFREE To differentiate severe congenital neutropenia (SCN) from autoimmune neutropenia (AIN) in patients with persistent neutropenia ≤1000/mm(3) over three months, we evaluated anti-neutrophil auto-antibodies, candidate genes of ELANA, HAX1 and GCSFR, and neutrophil elastase (NE) activity in 38 patients (21 females; average onset age 14.12 ± 2.49 months) in a primary immunodeficiency disease center between 2004 and 2011. 23206890 2013