Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ Siobhan O. Burns, MD, PhD, Vincent Plagnol,

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Presentation transcript:

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ Siobhan O. Burns, MD, PhD, Vincent Plagnol, PhD, Beatriz Morillo Gutierrez, MD, Daifulah Al Zahrani, MD, James Curtis, BSc, Miguel Gaspar, PhD, Amel Hassan, MD, Alison M. Jones, MD, Marian Malone, MD, Dyanne Rampling, FIBMS, Alex McLatchie, BSc, Rainer Doffinger, PhD, Kimberly C. Gilmour, PhD, Frances Henriquez, MSc, Adrian J. Thrasher, MD, PhD, H. Bobby Gaspar, MD, PhD, Sergey Nejentsev, MD, PhD Journal of Allergy and Clinical Immunology Volume 134, Issue 1, Pages 215-218.e3 (July 2014) DOI: 10.1016/j.jaci.2013.12.1093 Copyright © 2014 The Authors Terms and Conditions

Fig 1 A and B, Photographs showing conical teeth, hepatosplenomegally, and widespread rash. C, Quantitation of cytokine release from patient and healthy control PBMCs following in vitro activation with various stimuli (y-axis). Representative data from 1 of 2 repeat experiments are shown. D, Sequence data for the index case showing the homozygous c.321C>A mutation. E, Western blot showing that the IKKβ protein is present in the healthy donor (HD) but is absent from the patient's (P) PBMCs. Journal of Allergy and Clinical Immunology 2014 134, 215-218.e3DOI: (10.1016/j.jaci.2013.12.1093) Copyright © 2014 The Authors Terms and Conditions

Fig E1 A, Genealogical tree for the kindred. Arrow highlights index case. Asterisks denote family members who died within the first 2 months of life with febrile illnesses. B, Histology showing granuloma in skin by hematoxylin and eosin staining. Journal of Allergy and Clinical Immunology 2014 134, 215-218.e3DOI: (10.1016/j.jaci.2013.12.1093) Copyright © 2014 The Authors Terms and Conditions

Fig E2 A, Schematic IKBKB gene showing the mutation identified in our family. B, Sequence data for the index case, parents, and healthy control showing heterozygous carriage of the c.321C>A mutation in both parents. Journal of Allergy and Clinical Immunology 2014 134, 215-218.e3DOI: (10.1016/j.jaci.2013.12.1093) Copyright © 2014 The Authors Terms and Conditions