@article{664933bb20ba40079f4ab6e49941153a,
title = "Pathogenic DDOST Variant Is Associated with Humoral Immune Deficiency",
author = "Andrea Sitek and Anna Ligezka and Rohit Budhraja and Eva Morava and Chiarella, {Sergio E.}",
note = "Funding Information: This work was funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198–01) from the National Institute of Neurological Diseases and Stroke (NINDS), the National Center for Advancing Translational Sciences (NCATS), National Institute of Child Health and Human Development (NICHD), and the Rare Disorders Consortium Disease Network (RDCRN), at the National Institute of Health. Funding Information: We would like to acknowledge Wasantha Ranatunga, Ph.D., M.S. and Rory Olson Ph.D. for their contribution to data acquisition and analysis.",
year = "2023",
month = may,
doi = "10.1007/s10875-023-01429-3",
language = "English (US)",
volume = "43",
pages = "692--694",
journal = "Journal of Clinical Immunology",
issn = "0271-9142",
publisher = "Springer New York",
number = "4",
}