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

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...

Full description

Bibliographic Details
Main Authors: Francesco Saettini, Grazia Fazio, Daniele Moratto, Marta Galbiati, Nicola Zucchini, Davide Ippolito, Marco Emilio Dinelli, Luisa Imberti, Mario Mauri, Maria Luisa Melzi, Sonia Bonanomi, Alessio Gerussi, Marinella Pinelli, Chiara Barisani, Cristina Bugarin, Marco Chiarini, Mauro Giacomelli, Rocco Piazza, Giovanni Cazzaniga, Pietro Invernizzi, Silvia Clara Giliani, Raffaele Badolato, Andrea Biondi
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Immunology
Subjects:
primary immumunodeficiencies
DOCK 8
EBV - Epstein-Barr Virus
sclerosing cholangitis
thrombocytopenia
lymphopenia
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.673487/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2021.673487/full

Similar Items