A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy

Rohit G Saldanha; Katherine R Balka; Sophia Davidson; Brynn K Wainstein; Melanie Wong; Rebecca Macintosh; Christine KC Loo; Martin A Weber; Vasanth Kamath; Fiona Moghaddas; Dominic De Nardo; Paul Edgar Gray; Seth Lucian Masters

Journal article

A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy

Rohit G Saldanha, Katherine R Balka, Sophia Davidson, Brynn K Wainstein, Melanie Wong, Rebecca Macintosh, Christine KC Loo, Martin A Weber, Vasanth Kamath, Fiona Moghaddas, Dominic De Nardo, Paul Edgar Gray, Seth Lucian Masters

Frontiers in Immunology | FRONTIERS MEDIA SA | Published : 2018

DOI: 10.3389/fimmu.2018.01535

University of Melbourne Researchers

Dominic de Nardo Author Medical Biology (W.E.H.I.)

Seth Masters Author Medical Biology (W.E.H.I.)

Sophia Davidson Author Medical Biology (W.E.H.I.)

Grants

Awarded by NHMRC

Funding Acknowledgements

SM acknowledges funding from NHMRC grants (1144282, 1142354, and 1099262), The Sylvia and Charles Viertel Foundation, HHMI-Wellcome International Research Scholarship, and Glaxosmithkline. SD acknowledges funding from NHMRC ECF: GNT1143412. Costco Wholesale Australia and the Fundraising department of The Children's Hospital at Westmead provided generous support to enable genomic sequencing through a SCHN rare disease genomics initiative.