Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis

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 feature...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8085392/
https://www.ncbi.nlm.nih.gov/pubmed/33936120
http://dx.doi.org/10.3389/fimmu.2021.673487

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