A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency

Human Mutation

Volumn 29, Issue 6, 2008, Pages 861-868

  Lopez Granados, Eduardo ^a   Keenan, Jeffrey E ^a   Kinney, Matthew C ^a   Leo, Harvey ^b   Jain, Neal ^b   Ma, Chi A ^a   Quinones, Ralph ^c   Gelfand, Erwin W ^b   Jain, Ashish ^a  

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b NATIONAL JEWISH MEDICAL AND RESEARCH CENTER   (United States)

^c CHILDREN S HOSPITAL   (United States)

Author keywords

Antigen presenting cell; Ectodermal dysplasia; EDI; I B ; IKBA; IKBKG; Lymphocyte activation; NEMO; NF B; NFKBIA; Primary immunodeficiency

Indexed keywords

BETA ACTIN; CD40 LIGAND; GAMMA INTERFERON; GLUTAMIC ACID; I KAPPA B ALPHA; I KAPPA B KINASE GAMMA; INTERLEUKIN 12; METHIONINE; OKT 3; OUTER SURFACE PROTEIN A; PROTEASOME; PROTEIN P50; SERINE; TRANSCRIPTION FACTOR REL; TRANSCRIPTION FACTOR RELA; TUMOR NECROSIS FACTOR ALPHA;

AMINO TERMINAL SEQUENCE; ANHIDROSIS; ARTICLE; CASE REPORT; CONTROLLED STUDY; ECTODERMAL DYSPLASIA; EUKARYOTE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IKBA GENE; IMMUNE DEFICIENCY; IMMUNE RESPONSE; INFANT; LYMPHOCYTE; MALE; MONOCYTE; NFKBIA GENE; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN PHOSPHORYLATION; SIGNAL TRANSDUCTION; STOP CODON; TRANSLATION INITIATION;

AMINO ACID SEQUENCE; CODON, NONSENSE; ECTODERMAL DYSPLASIA; HUMANS; I-KAPPA B KINASE; I-KAPPA B PROTEINS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; MOLECULAR SEQUENCE DATA; NF-KAPPA B; PROTEIN BIOSYNTHESIS; T-LYMPHOCYTES;

EUKARYOTA;

EID: 44849115170     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20740     Document Type: Article

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