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
10.3389/fimmu.2021.673487
Front Immunol
2021 Apr 16;12:673487.
dock 8 ebv - epstein-barr virus lymphopenia primary immumunodeficiencies sclerosing cholangitis somatic reversion thrombocytopenia
CC BY
https://pubmed.ncbi.nlm.nih.gov/33936120/
Cholangitis, Sclerosing / genetics Guanine Nucleotide Exchange Factors / genetics Primary Immunodeficiency Diseases / genetics
Cholangitis, Sclerosing / genetics Guanine Nucleotide Exchange Factors / genetics Primary Immunodeficiency Diseases / genetics Case Reports Research Support, Non-U.S. Gov't Child Female Humans Mutation DOCK8 protein, human Guanine Nucleotide Exchange Factors
PMC8085392
33936120
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis
2021