TY  - GEN
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
TI  - Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ
SN  - 1097-6825
PY  - 2014///1204
KW  - Codon, Nonsense
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Fatal Outcome
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - I-kappa B Kinase
KW  - deficiency
KW  - Immunologic Deficiency Syndromes
KW  - complications
KW  - Infant
KW  - Mycobacterium Infections
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.jaci.2013.12.1093
ER  -