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

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

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)215-8
Number of pages4
JournalJournal of Allergy and Clinical Immunology
Volume134
Issue number1
DOIs
Publication statusPublished - Jul 2014

Cite this

Burns, Siobhan O ; Plagnol, Vincent ; Gutierrez, Beatriz Morillo ; Al Zahrani, Daifulah ; Curtis, James ; Gaspar, Miguel ; Hassan, Amel ; Jones, Alison M ; Malone, Marian ; Rampling, Dyanne ; McLatchie, Alex ; Doffinger, Rainer ; Gilmour, Kimberly C ; Henriquez, Frances ; Thrasher, Adrian J ; Gaspar, H Bobby ; Nejentsev, Sergey. / Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ. In: Journal of Allergy and Clinical Immunology. 2014 ; Vol. 134, No. 1. pp. 215-8.
@article{0d3324a490824f8d8f8df2d52cdc1a51,
title = "Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ",
keywords = "Codon, Nonsense, Consanguinity, DNA Mutational Analysis, Fatal Outcome, Female, Homozygote, Humans, I-kappa B Kinase/deficiency, Immunologic Deficiency Syndromes/complications, Infant, Mycobacterium Infections/complications",
author = "Burns, {Siobhan O} and Vincent Plagnol and Gutierrez, {Beatriz Morillo} and {Al Zahrani}, Daifulah and James Curtis and Miguel Gaspar and Amel Hassan and Jones, {Alison M} and Marian Malone and Dyanne Rampling and Alex McLatchie and Rainer Doffinger and Gilmour, {Kimberly C} and Frances Henriquez and Thrasher, {Adrian J} and Gaspar, {H Bobby} and Sergey Nejentsev",
year = "2014",
month = "7",
doi = "10.1016/j.jaci.2013.12.1093",
language = "English",
volume = "134",
pages = "215--8",
journal = "Journal of Allergy and Clinical Immunology",
issn = "0091-6749",
publisher = "Mosby Inc.",
number = "1",

}

Burns, SO, Plagnol, V, Gutierrez, BM, Al Zahrani, D, Curtis, J, Gaspar, M, Hassan, A, Jones, AM, Malone, M, Rampling, D, McLatchie, A, Doffinger, R, Gilmour, KC, Henriquez, F, Thrasher, AJ, Gaspar, HB & Nejentsev, S 2014, 'Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ' Journal of Allergy and Clinical Immunology, vol. 134, no. 1, pp. 215-8. https://doi.org/10.1016/j.jaci.2013.12.1093

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ. / Burns, Siobhan O; Plagnol, Vincent; Gutierrez, Beatriz Morillo; Al Zahrani, Daifulah; Curtis, James; Gaspar, Miguel; Hassan, Amel; Jones, Alison M; Malone, Marian; Rampling, Dyanne; McLatchie, Alex; Doffinger, Rainer; Gilmour, Kimberly C; Henriquez, Frances; Thrasher, Adrian J; Gaspar, H Bobby; Nejentsev, Sergey.

In: Journal of Allergy and Clinical Immunology, Vol. 134, No. 1, 07.2014, p. 215-8.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

AU - Burns, Siobhan O

AU - Plagnol, Vincent

AU - Gutierrez, Beatriz Morillo

AU - Al Zahrani, Daifulah

AU - Curtis, James

AU - Gaspar, Miguel

AU - Hassan, Amel

AU - Jones, Alison M

AU - Malone, Marian

AU - Rampling, Dyanne

AU - McLatchie, Alex

AU - Doffinger, Rainer

AU - Gilmour, Kimberly C

AU - Henriquez, Frances

AU - Thrasher, Adrian J

AU - Gaspar, H Bobby

AU - Nejentsev, Sergey

PY - 2014/7

Y1 - 2014/7

KW - Codon, Nonsense

KW - Consanguinity

KW - DNA Mutational Analysis

KW - Fatal Outcome

KW - Female

KW - Homozygote

KW - Humans

KW - I-kappa B Kinase/deficiency

KW - Immunologic Deficiency Syndromes/complications

KW - Infant

KW - Mycobacterium Infections/complications

U2 - 10.1016/j.jaci.2013.12.1093

DO - 10.1016/j.jaci.2013.12.1093

M3 - Article

VL - 134

SP - 215

EP - 218

JO - Journal of Allergy and Clinical Immunology

JF - Journal of Allergy and Clinical Immunology

SN - 0091-6749

IS - 1

ER -