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

doi:https://doi.org/10.1016/j.jaci.2013.12.1093

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 journal › Article › Academic › peer-review

35 Citations (Scopus)

Original language	English
Pages (from-to)	215-8
Number of pages	4
Journal	Journal of allergy and clinical immunology
Volume	134
Issue number	1
DOIs	https://doi.org/10.1016/j.jaci.2013.12.1093
Publication status	Published - Jul 2014
Externally published	Yes

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

Access to Document

https://doi.org/10.1016/j.jaci.2013.12.1093

Cite this

Burns, S. O., Plagnol, V., Gutierrez, B. M., Al Zahrani, D., Curtis, J., Gaspar, M., Hassan, A., Jones, A. M., Malone, M., Rampling, D., McLatchie, A., Doffinger, R., Gilmour, K. C., Henriquez, F., Thrasher, A. J., Gaspar, H. B., & Nejentsev, S. (2014). Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ. Journal of allergy and clinical immunology, 134(1), 215-8. https://doi.org/10.1016/j.jaci.2013.12.1093

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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",

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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

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 - https://doi.org/10.1016/j.jaci.2013.12.1093

DO - https://doi.org/10.1016/j.jaci.2013.12.1093

M3 - Article

C2 - 24679846

SN - 0091-6749

VL - 134

SP - 215

EP - 218

JO - Journal of allergy and clinical immunology

JF - Journal of allergy and clinical immunology

IS - 1

ER -