@article{61d95a859ece4addad78d3684fbafca5,
title = "Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency",
keywords = "X-linked combined immunodeficiency diseases, severe combined immunodeficiency, atypical, interleukin receptor common gamma subunit, IL2RG, endoplasmic reticulum, Golgi apparatus, COMBINED IMMUNE-DEFICIENCY, GAMMA-CHAIN, CELL DIFFERENTIATION, INTERLEUKIN-2 IL-2, T-LYMPHOCYTES, NK-CELLS, REVERSION, BIOLOGY, DISEASE, PROLIFERATION, 3111 Biomedicine",
author = "Tuovinen, {Elina A.} and Juha Gr{\"o}nholm and Tiina {\"O}hman and Sakari P{\"o}ysti and Raine Toivonen and Anna Kreutzman and Kaarina Heiskanen and Luca Trotta and Sanna Toiviainen-Salo and Routes, {John M.} and James Verbsky and Satu Mustjoki and Janna Saarela and Juha Kere and Markku Varjosalo and Arno H{\"a}nninen and Sepp{\"a}nen, {Mikko R. J.}",
year = "2020",
month = apr,
doi = "10.1007/s10875-020-00745-2",
language = "English",
volume = "40",
pages = "503--514",
journal = "Journal of Clinical Immunology",
issn = "0271-9142",
publisher = "Springer",
number = "3",
}