Article
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis.
Frontiers in immunology - 1 Jan 2021
Saettini Francesco, Fazio Grazia, Moratto Daniele, Galbiati Marta, Zucchini Nicola, Ippolito Davide, Dinelli Marco Emilio, Imberti Luisa, Mauri Mario, Melzi Maria Luisa, Bonanomi Sonia, Gerussi Alessio, Pinelli Marinella, Barisani Chiara, Bugarin Cristina, Chiarini Marco, Giacomelli Mauro, Piazza Rocco, Cazzaniga Giovanni, Invernizzi Pietro, Giliani Silvia Clara, Badolato Raffaele, Biondi Andrea
Abstract excerpt
DOCK8 deficiency is a combined immunodeficiency due to biallelic variants in dedicator of cytokinesis 8 (DOCK8) gene. The disease has a wide clinical spectrum encompassing recurrent infections (candidiasis, viral and bacterial infections), virally driven malignancies and immune dysregulatory features, including autoimmune (cytopenia and vasculitis) as well as allergic disorders (eczema, asthma, and food allergy)....
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