Heterozygous N-terminal deletion of IκBα results in functional nuclear factor κB haploinsufficiency, ectodermal dysplasia, and immune deficiency

Journal of Allergy and Clinical Immunology

Volumn 120, Issue 4, 2007, Pages 900-907

  McDonald, Douglas R ^a   Mooster, Jana L ^a   Reddy, Malathi ^b   Bawle, Erawati ^b   Secord, Elizabeth ^b   Geha, Raif S ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b WAYNE STATE UNIVERSITY   (United States)

Author keywords

degradation; Ectodermal dysplasia with immune deficiency; haploinsufficiency; I B ; nuclear factor B; phosphorylation; Toll like receptors

Indexed keywords

ALPHA INTERFERON; AMINO ACID; I KAPPA B ALPHA; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; LUCIFERASE; TOLL LIKE RECEPTOR; TUMOR NECROSIS FACTOR ALPHA;

AMINO TERMINAL SEQUENCE; ARTICLE; CASE REPORT; CYTOKINE PRODUCTION; CYTOPLASM; DISEASE ASSOCIATION; DNA BINDING; ECTODERMAL DYSPLASIA; ENZYME ASSAY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GEL MOBILITY SHIFT ASSAY; GENE MUTATION; GENE SEQUENCE; HAPLOINSUFFICIENCY; HAPLOTYPE; HEMIZYGOSITY; HEREDITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; PRIORITY JOURNAL; SCHOOL CHILD;

ACTIVE TRANSPORT, CELL NUCLEUS; CHILD; CODON, NONSENSE; CYTOKINES; ECTODERMAL DYSPLASIA; FEMALE; GENE DELETION; HUMANS; I-KAPPA B PROTEINS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INTERLEUKIN-1; NF-KAPPA B; PHOSPHORYLATION; TOLL-LIKE RECEPTORS;

EID: 34948908695     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2007.08.035     Document Type: Article

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