Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1

Blood

Volumn 126, Issue 13, 2015, Pages 1527-1535

  Record, Julien ^a   Malinova, Dessislava ^a   Zenner, Helen L ^b   Plagnol, Vincent ^c   Nowak, Karolin ^a   Syed, Farhatullah ^a   Bouma, Gerben ^a   Curtis, James ^b   Gilmour, Kimberly ^d   Cale, Catherine ^d   Hackett, Scott ^e   Charras, Guillaume ^c   Moulding, Dale ^a   Nejentsev, Sergey ^b   Thrasher, Adrian J ^a,d   Burns, Siobhan O ^c,f  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^f ROYAL FREE LONDON NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; ANTIMYCOBACTERIAL AGENT; BCG VACCINE; CD11B ANTIGEN; CIPROFLOXACIN; F ACTIN; G ACTIN; IMMUNOGLOBULIN; MYOCARDIN RELATED TRANSCRIPTION FACTOR A; MYOSIN II; MYOSIN LIGHT CHAIN; MYOSIN LIGHT CHAIN 9; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; ACTIN; MKL1 PROTEIN, HUMAN; STOP CODON; TRANSACTIVATOR PROTEIN;

ABSCESS; ACTIN FILAMENT; ANTIBIOTIC PROPHYLAXIS; ANTIBIOTIC THERAPY; ARTICLE; BACTERIAL INFECTION; BACTERIAL MENINGITIS; BCG VACCINATION; BONE MARROW CELL; BONE MARROW CULTURE; CASE REPORT; CELL ADHESION; CELL LINEAGE; CELL MIGRATION; CELL STRUCTURE; CHICKENPOX; CHILD; CONTROLLED STUDY; CYTOSKELETON; DENDRITIC CELL; ESCHERICHIA COLI; EXTERNAL OTITIS; FEMALE; FIBROBLAST; FLOW CYTOMETRY; GENE; GENETIC ASSOCIATION; HOMOZYGOTE; HUMAN; HUMAN CELL; HYPERPIGMENTATION; IMMUNE DEFICIENCY; IN VITRO STUDY; INFECTION SENSITIVITY; LOSS OF FUNCTION MUTATION; LYMPHOID CELL; MEGAKARYOBLASTIC LEUKEMIA 1 GENE; MUTATIONAL ANALYSIS; NEUTROPHIL; NEUTROPHIL CHEMOTAXIS; NONSENSE MUTATION; PHAGOCYTOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSEUDOMONAS INFECTION; SEPTIC SHOCK; SEPTICEMIA; SKIN ABSCESS; SKIN INFECTION; SKIN SCAR; THROMBOCYTOPENIA; VACCINATION REACTION; CELL CULTURE; CELL LINE; CELL MOTION; COMPLICATION; CYTOLOGY; GENETICS; IMMUNOLOGIC DEFICIENCY SYNDROMES; ISOLATION AND PURIFICATION; METABOLISM; PSEUDOMONAS; PSEUDOMONAS INFECTIONS; STOP CODON; ULTRASTRUCTURE;

ACTINS; CELL LINE; CELL MOVEMENT; CELLS, CULTURED; CODON, NONSENSE; CYTOSKELETON; DENDRITIC CELLS; FEMALE; FIBROBLASTS; HOMOZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; NEUTROPHILS; PSEUDOMONAS; PSEUDOMONAS INFECTIONS; TRANS-ACTIVATORS;

EID: 84942279813     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-12-611012     Document Type: Article

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