The diversity of mutations and clinical outcomes for ELANE-associated neutropenia

Current Opinion in Hematology

Volumn 22, Issue 1, 2015, Pages 3-11

  Makaryan, Vahagn ^a   Zeidler, Cornelia ^b   Bolyard, Audrey Anna ^d   Skokowa, Julia ^c   Rodger, Elin ^a   Kelley, Merideth L ^a   Boxer, Laurence A ^a   Bonilla, Mary Ann ^e   Newburger, Peter E ^f   Shimamura, Akiko ^g   Zhu, Bin ^h   Rosenberg, Philip S ^h   Link, Daniel C ⁱ   Welte, Karl ^b   Dale, David C ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^d UNIVERSITY OF WASHINGTON   (United States)

^e St Joseph's Hospital   (United States)

^f UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^g Fred Hutchinson Cancer Research Center   (United States)

^h NATIONAL CANCER INSTITUTE   (United States)

ⁱ WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Congenital neutropenia; Cyclic neutropenia; ELANE; Neutropenia; Neutrophil elastase

Indexed keywords

LEUKOCYTE ELASTASE; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR;

ACUTE GRANULOCYTIC LEUKEMIA; AMINO ACID SUBSTITUTION; DNA SEQUENCE; ELANE ASSOCIATED NEUTROPENIA; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HUMAN; MEDICAL RECORD REVIEW; MISSENSE MUTATION; MYELODYSPLASTIC SYNDROME; NEUTROPENIA; NEUTROPHIL COUNT; OUTCOME ASSESSMENT; PHENOTYPE; PUBLICATION; REVIEW; SEVERE CONGENITAL NEUTROPENIA; STEM CELL TRANSPLANTATION; TREATMENT OUTCOME; ACUTE MYELOBLASTIC LEUKEMIA; ANIMAL; ENZYMOLOGY; GENETIC DISORDER; GENETICS; METABOLISM; MUTATION;

ANIMALS; GENETIC DISEASES, INBORN; HUMANS; LEUKEMIA, MYELOID, ACUTE; LEUKOCYTE ELASTASE; MUTATION; NEUTROPENIA;

EID: 84916933346     PISSN: 10656251     EISSN: 15317048     Source Type: Journal    
DOI: 10.1097/MOH.0000000000000105     Document Type: Review

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