Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia

British Journal of Haematology

Volumn 115, Issue 1, 2001, Pages 222-224

  Germeshausen, Manuela ^a   Schulze, Harald ^a   Ballmaier, Matthias ^a   Zeidler, Cornelia ^a   Welte, Karl ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Congenital neutropenia; ELA2; Mutations; Neutrophil elastase

Indexed keywords

LEUKOCYTE ELASTASE;

ARTICLE; CASE REPORT; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC CODE; HETEROZYGOTE; HUMAN; INHERITANCE; NEUTROPENIA; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

CELL COUNT; CELL DIFFERENTIATION; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; NEUTROPENIA; NEUTROPHILS; PANCREATIC ELASTASE; PEDIGREE;

EID: 0034782759     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.03069.x     Document Type: Article

References (7)

1. Mutations in ELA2 encoding for neutrophil elastase are a frequent finding in sporadic but not familial severe congenital neutropenia
2. The diversity of neutrophil elastase mutations in congenital neutropenia
3. Mutations in the neutrophil elastase gene (ELA2) are present in patients with cyclic and severe congenital neutropenia
4. Mutation in the gene encoding neutrophil in congenital and cyclic neutropenia
5. Decreased neutrophil elastase activity in patients with severe congenital neutropenia is not correlated to mutations in ELA2
6. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis
7. Infantile genetic agranulocytosis