Article
Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency.
Journal of clinical immunology - 1 Feb 2020
Abolhassani Hassan, El-Sherbiny Yasser M, Arumugakani Gururaj, Carter Clive, Richards Stephen, Lawless Dylan, Wood Philip, Buckland Matthew, Heydarzadeh Marzieh, Aghamohammadi Asghar, Hambleton Sophie, Hammarström Lennart, Burns Siobhan O, Doffinger Rainer, Savic Sinisa
Abstract excerpt
BACKGROUND: Inducible T cell co-stimulator (ICOS) deficiency has been categorized as a combined immunodeficiency often complicated by enteropathies, autoimmunity, lymphoproliferation, and malignancy. We report seven new patients and four novel ICOS mutations resulting in a common variable immunodeficiency (CVID)-like phenotype and show that dysregulated IL-12 release, reduced cytotoxic T lymphocyte-associated...
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