Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

Journal of Allergy and Clinical Immunology

Volumn 134, Issue 1, 2014, Pages

  Burns, Siobhan O ^a,b   Plagnol, Vincent ^a   Gutierrez, Beatriz Morillo ^b   Al Zahrani, Daifulah ^c   Curtis, James ^d   Gaspar, Miguel ^d   Hassan, Amel ^b   Jones, Alison M ^b   Malone, Marian ^b   Rampling, Dyanne ^b   McLatchie, Alex ^a   Doffinger, Rainer ^d   Gilmour, Kimberly C ^b   Henriquez, Frances ^b,e   Thrasher, Adrian J ^b,e   Gaspar, H Bobby ^b,e   Nejentsev, Sergey ^d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AZITHROMYCIN; ETHAMBUTOL; FLUCONAZOLE; I KAPPA B KINASE; IMMUNOGLOBULIN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; ISONIAZID; PYRIDOXINE; RIFAMPICIN; IKBKB PROTEIN, HUMAN; STOP CODON;

CASE REPORT; CHILD; CONTROLLED STUDY; FEMALE; HUMAN; IMMUNE DEFICIENCY; LETTER; MYCOBACTERIOSIS; NONSENSE MUTATION; PRIORITY JOURNAL; SKIN BIOPSY; COMPLICATION; CONSANGUINITY; DEFICIENCY; FATALITY; GENETICS; HOMOZYGOTE; IMMUNOLOGY; INFANT; NUCLEOTIDE SEQUENCE; PATHOLOGY; STOP CODON;

CODON, NONSENSE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; I-KAPPA B KINASE; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MYCOBACTERIUM INFECTIONS;

EID: 84901500584     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.12.1093     Document Type: Article

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