Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy

British Journal of Haematology

Volumn 147, Issue 4, 2009, Pages 587-590

  Lundén, Lina ^a,b   Boxhammer, Sandra ^a,d   Carlsson, Göran ^a   Ellström, Karl Gustav ^c   Nordenskjöld, Magnus ^b   Lagerstedt Robinson, Kristina ^b   Fadeel, Bengt ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c CENTRAL HOSPITAL   (Sweden)

^d Katholisches Kinderkrankenhaus Wilhelmstift   (Germany)

Author keywords

De novo mutation; ELANE (ELA2); G CSF treatment; Severe congenital neutropenia

Indexed keywords

ANTIBIOTIC AGENT; GRANULOCYTE COLONY STIMULATING FACTOR; LEUKOCYTE ELASTASE;

ACUTE OTITIS MEDIA; AMINO ACID SUBSTITUTION; BACTERIAL INFECTION; BONE MARROW DEPRESSION; CASE REPORT; CHILD; CHILD DEVELOPMENT; DISEASE SEVERITY; DRUG DOSE INCREASE; DRUG MEGADOSE; EXON; FAILURE TO THRIVE; GINGIVITIS; HUMAN; HUMAN TISSUE; INFECTION SENSITIVITY; LETTER; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MOUTH INFECTION; MYELOPOIESIS; NEUTROPENIA; NEUTROPHIL COUNT; PERIODONTITIS; PRIORITY JOURNAL; RECURRENT INFECTION; SCHOOL CHILD; SEVERE CONGENITAL NEUTROPENIA; SKIN INFECTION; TREATMENT OUTCOME;

BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; GRANULOCYTE COLONY-STIMULATING FACTOR; HUMANS; LEUKOCYTE ELASTASE; MALE; MUTATION, MISSENSE; NEUTROPENIA;

EID: 70350455104     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2009.07866.x     Document Type: Letter

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