Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of the NEMO gene

Journal of Allergy and Clinical Immunology

Volumn 126, Issue 1, 2010, Pages

  Mooster, Jana L ^a   Cancrini, Caterina ^b,c   Simonetti, Alessandra ^b,c   Rossi, Paolo ^b,c   Di Matteo, Gigliola ^b,c   Romiti, Maria Luisa ^b,c   Di Cesare, Silvia ^b,c   Notarangelo, Luigi ^a   Geha, Raif S ^a   McDonald, Douglas R ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

5 untranslated region mutation; immune deficiency; NEMO; recurrent infections

Indexed keywords

ALPHA INTERFERON; I KAPPA B KINASE GAMMA; IMMUNOGLOBULIN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 1; LUCIFERASE; MESSENGER RNA; SYNAPTOTAGMIN I; TOLL LIKE RECEPTOR; TOLL LIKE RECEPTOR 7; TUMOR NECROSIS FACTOR ALPHA;

5' UNTRANSLATED REGION; ARTICLE; CASE REPORT; CHILD; CLINICAL ASSESSMENT; CONTROLLED STUDY; CYTOKINE PRODUCTION; DYSGAMMAGLOBULINEMIA; ENZYME ACTIVATION; ENZYME LINKED IMMUNOSORBENT ASSAY; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNE DEFICIENCY; LOWER RESPIRATORY TRACT INFECTION; MALE; PERIPHERAL BLOOD MONONUCLEAR CELL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; RECURRENT INFECTION; REPORTER GENE; RNA SPLICING; SCHOOL CHILD; WESTERN BLOTTING;

EID: 77953961001     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2010.04.026     Document Type: Article

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