A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy

Journal of Clinical Immunology

Volumn 33, Issue 6, 2013, Pages 1088-1099

  Schimke, Lena F ^a,b   Rieber, Nikolaus ^b,c   Rylaarsdam, Stacey ^a   Cabral Marques, Otávio ^a,d   Hubbard, Nicholas ^a   Puel, Anne ^e,f   Kallmann, Laura ^b   Sombke, Stephanie Anover ^a   Notheis, Gundula ^b   Schwarz, Hans Peter ^b   Kammer, Birgit ^b   Hökfelt, Tomas ^g   Repp, Reinald ^h   Picard, Capucine ^e,f,i   Casanova, Jean Laurent ^e,f,j   Belohradsky, Bernd H ^b   Albert, Michael H ^b   Ochs, Hans D ^a   Renner, Ellen D ^a,b   Torgerson, Troy R ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

^e IMAGINE INSTITUTE   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

^g KAROLINSKA INSTITUTE   (Sweden)

^h Children's Hospital   (Germany)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j ROCKEFELLER UNIVERSITY   (United States)

more..

Author keywords

Ectodermal dysplasia with immunodeficiency; IKBA; NF B signaling; polyendocrinopathy

Indexed keywords

ALEMTUZUMAB; COTRIMOXAZOLE; CYCLOSPORIN A; FLUCONAZOLE; FLUDARABINE; GENOMIC DNA; HYDROCORTISONE; I KAPPA B ALPHA; I KAPPA B KINASE GAMMA; IMMUNOGLOBULIN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 10; INTERLEUKIN 17; INTERLEUKIN 1BETA; INTERLEUKIN 6; IONOMYCIN; LEVOTHYROXINE; LIPOPOLYSACCHARIDE; LUCIFERASE; METHYLPREDNISOLONE; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PHORBOL 13 ACETATE 12 MYRISTATE; TOLL LIKE RECEPTOR AGONIST; TREOSULFAN; TUMOR NECROSIS FACTOR ALPHA;

ACUTE GRAFT VERSUS HOST DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BACTERIAL INFECTION; BACTERIAL PNEUMONIA; CASE REPORT; CELL NUCLEUS; CELL STIMULATION; CHILD; CHRONIC GRAFT VERSUS HOST DISEASE; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; CYTOKINE PRODUCTION; CYTOKINE RELEASE; DETERIORATION; DIARRHEA; DISEASE COURSE; ECTODERMAL DYSPLASIA; ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY; ENZYME ACTIVITY; FAILURE TO THRIVE; FIBROBLAST; GAIN OF FUNCTION MUTATION; GENE EXPRESSION; GENETIC ANALYSIS; GRAFT VERSUS HOST REACTION; HAEMOPHILUS INFECTION; HELA CELL; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOTE; HISTOCOMPATIBILITY; HLA MATCHING; HUMAN; HUMAN CELL; HYPOPITUITARISM; HYPOTHYROIDISM; IKBA GENE; IKBKG GENE; IMMUNE DEFICIENCY; IMMUNOPHENOTYPING; LABORATORY TEST; LEUKOCYTE COUNT; LIVER DISEASE; LYMPHOCYTE COUNT; LYMPHOCYTOSIS; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUCOCUTANEOUS CANDIDIASIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PERICARDITIS; PHENOTYPE; PNEUMOCYSTIS PNEUMONIA; POLYENDOCRINOPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN INDUCTION; PROTEIN TRANSPORT; RESPIRATORY TRACT INFECTION; SEPSIS; SIGNAL TRANSDUCTION; T LYMPHOCYTE; TRANSIENT TRANSFECTION; WILD TYPE;

ACTIVE TRANSPORT, CELL NUCLEUS; CELL NUCLEUS; CHILD, PRESCHOOL; CYTOKINES; ECTODERMAL DYSPLASIA; FIBROBLASTS; HELA CELLS; HUMANS; I-KAPPA B KINASE; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; LYMPHOCYTE ACTIVATION; MALE; MUTATION, MISSENSE; POLYENDOCRINOPATHIES, AUTOIMMUNE; PROTEOLYSIS; TH17 CELLS; TRANSGENES;

EID: 84880318874     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-013-9906-1     Document Type: Article

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