Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations

Pediatric Blood and Cancer

Volumn 61, Issue 6, 2014, Pages 1041-1048

  Roques, Gaëlle ^a,b   Munzer, Martine ^b   Barthez, Marie Anne Carpentier ^c   Beaufils, Sandrine ^d   Beaupain, Blandine ^a   Flood, Terry ^e   Keren, Boris ^d   Bellanné Chantelot, Christine ^d   Donadieu, Jean ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b REIMS UNIVERSITY HOSPITAL   (France)

^c UNIVERSITY HOSPITAL OF TOURS   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Encephalopathy; HAX1; Severe congenital neutropenia

Indexed keywords

CARBAMAZEPINE; COTRIMOXAZOLE; GRANULOCYTE COLONY STIMULATING FACTOR; HAX1 PROTEIN; LACTIC ACID; PHENOBARBITAL; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ANTIBIOTIC THERAPY; ANTICONVULSANT THERAPY; APRAXIA; ARTICLE; BACTERIAL INFECTION; BONE MARROW BIOPSY; BONE MARROW CELL; BRAIN CORTEX ATROPHY; CAUSE OF DEATH; CELLULITIS; CEREBELLUM ATROPHY; CHILD; CHIMERA; CHROMOSOME 1; CLINICAL ARTICLE; COMORBIDITY; DISEASE REGISTRY; EXON; FAILURE TO THRIVE; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; FRANCE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GRANULOCYTE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; INTENSIVE CARE UNIT; LACTATE BLOOD LEVEL; LANGUAGE DELAY; LUNG ABSCESS; MALE; MENTAL DEFICIENCY; MONOCYTOSIS; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NEUROLOGICAL COMPLICATION; NEUTROPENIA; NEUTROPHIL COUNT; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OTITIS; PANCOLITIS; PEDIGREE; PNEUMONIA; PRIORITY JOURNAL; PROMYELOCYTE; QUADRIPLEGIA; RECURRENT INFECTION; SEIZURE; SEPSIS; SEVERE CONGENITAL NEUTROPENIA; SKIN INFECTION; STOMATITIS;

ENCEPHALOPATHY; HAX1; SEVERE CONGENITAL NEUTROPENIA;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ATROPHY; BACTERIAL INFECTIONS; BRAIN; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; ETHNIC GROUPS; EXONS; FEMALE; FRANCE; GENES, RECESSIVE; GRANULOCYTE COLONY-STIMULATING FACTOR; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IMMUNOCOMPROMISED HOST; INFANT; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; MYELOPOIESIS; NEUTROPENIA; PAKISTAN; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ISOFORMS; SEQUENCE DELETION;

EID: 84901704024     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24964     Document Type: Article

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