title: Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.
authors.affiliation: Institute of Immunity and Transplantation, University College London, and the Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom. Electronic address: siobhan.burns@ucl.ac.uk.
authors.forename: Siobhan O
authors.initials: SO
authors.lastname: Burns
authors.affiliation: UCL Genetics Institute, UCL, London, United Kingdom.
authors.forename: Vincent
authors.initials: V
authors.lastname: Plagnol
authors.affiliation: Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
authors.forename: Beatriz Morillo
authors.initials: BM
authors.lastname: Gutierrez
authors.affiliation: Department of Pediatrics, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
authors.forename: Daifulah
authors.initials: D
authors.lastname: Al Zahrani
authors.affiliation: Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
authors.forename: James
authors.initials: J
authors.lastname: Curtis
authors.affiliation: Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
authors.forename: Miguel
authors.initials: M
authors.lastname: Gaspar
authors.affiliation: Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
authors.forename: Amel
authors.initials: A
authors.lastname: Hassan
authors.affiliation: Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
authors.forename: Alison M
authors.initials: AM
authors.lastname: Jones
authors.affiliation: Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
authors.forename: Marian
authors.initials: M
authors.lastname: Malone
authors.affiliation: Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
authors.forename: Dyanne
authors.initials: D
authors.lastname: Rampling
authors.affiliation: Institute of Immunity and Transplantation, University College London, and the Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom.
authors.forename: Alex
authors.initials: A
authors.lastname: McLatchie
authors.affiliation: Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
authors.forename: Rainer
authors.initials: R
authors.lastname: Doffinger
authors.affiliation: Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
authors.forename: Kimberly C
authors.initials: KC
authors.lastname: Gilmour
authors.affiliation: Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Molecular Immunology Unit, Institute of Child Health, University College London, London, United Kingdom.
authors.forename: Frances
authors.initials: F
authors.lastname: Henriquez
authors.affiliation: Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Molecular Immunology Unit, Institute of Child Health, University College London, London, United Kingdom.
authors.forename: Adrian J
authors.initials: AJ
authors.lastname: Thrasher
authors.affiliation: Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Molecular Immunology Unit, Institute of Child Health, University College London, London, United Kingdom.
authors.forename: H Bobby
authors.initials: HB
authors.lastname: Gaspar
authors.affiliation: Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
authors.forename: Sergey
authors.initials: S
authors.lastname: Nejentsev
mesh_terms: D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006720:Homozygote; D006801:Humans; D051550:I-kappa B Kinase / Q000172:deficiency / Q000235:genetics* / Q000276:immunology; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D007223:Infant; D009164:Mycobacterium Infections / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000473:pathology
chemical_list: D018389:Codon, Nonsense; D051550:I-kappa B Kinase; C496560:IKBKB protein, human