Article
Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.
Frontiers in immunology - 1 Jan 2019
Hong Ying, Nanthapisal Sira, Omoyinmi Ebun, Olbrich Peter, Neth Olaf, Speckmann Carsten, Lucena Jose Manuel, Gilmour Kimberly, Worth Austen, Klein Nigel, Eleftheriou Despina, Brogan Paul
Abstract excerpt
Monogenic forms of vasculitis are rare but increasingly recognized. Furthermore, genetic immunodeficiency is increasingly associated with inflammatory immune dysregulatory features, including vasculitis. This case report describes a child of non-consanguineous parents who presented with chronic digital vasculitis early in life, is of short stature, has facial dysmorphia, immunodeficiency (low serum IgA, high...
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