A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease

B. M. Smits; P. H. C. Lelieveld; F. A. Ververs; M. Turkenburg; C. de Koning; M. van Dijk; H. L. Leavis; J. J. Boelens; C. A. Lindemans; A. C. Bloem; L. van de Corput; J. van Montfrans; S. Nierkens; M. E. van Gijn; D. P. Geerke; H. R. Waterham; L. Koenderman; M. Boes

doi:10.1016/j.clim.2019.108248

A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease

B. M. Smits
, P. H. C. Lelieveld
, F. A. Ververs
, M. Turkenburg
, C. de Koning
, M. van Dijk
, H. L. Leavis
, J. J. Boelens
, C. A. Lindemans
, A. C. Bloem
, L. van de Corput
, J. van Montfrans
, S. Nierkens
, M. E. van Gijn
, D. P. Geerke
, H. R. Waterham
, L. Koenderman
, M. Boes

Affiliatie UvA

Research output: Contribution to journal › Letter › Academic › peer-review

Original language	English
Article number	108248
Journal	Clinical immunology (Orlando, Fla.)
Volume	212
DOIs	https://doi.org/10.1016/j.clim.2019.108248
Publication status	Published - Mar 2020

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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10.1016/j.clim.2019.108248

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Smits, B. M., Lelieveld, P. H. C., Ververs, F. A., Turkenburg, M., de Koning, C., van Dijk, M., Leavis, H. L., Boelens, J. J., Lindemans, C. A., Bloem, A. C., van de Corput, L., van Montfrans, J., Nierkens, S., van Gijn, M. E., Geerke, D. P., Waterham, H. R., Koenderman, L., & Boes, M. (2020). A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease. Clinical immunology (Orlando, Fla.), 212, Article 108248. https://doi.org/10.1016/j.clim.2019.108248

@article{bcaeba4a87164433a22517e3f895c1ba,

title = "A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease",

author = "Smits, \{B. M.\} and Lelieveld, \{P. H. C.\} and Ververs, \{F. A.\} and M. Turkenburg and \{de Koning\}, C. and \{van Dijk\}, M. and Leavis, \{H. L.\} and Boelens, \{J. J.\} and Lindemans, \{C. A.\} and Bloem, \{A. C.\} and \{van de Corput\}, L. and \{van Montfrans\}, J. and S. Nierkens and \{van Gijn\}, \{M. E.\} and Geerke, \{D. P.\} and Waterham, \{H. R.\} and L. Koenderman and M. Boes",

note = "Funding Information: We thank Ninke Nieuwenhuis and Willemien Zuilhof for discussions on and reviewing of previous studies on RAC2-GAP interactions. We also would like to thank our patients for providing us with the information and samples needed to perform this study. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",

year = "2020",

month = mar,

doi = "10.1016/j.clim.2019.108248",

language = "English",

volume = "212",

journal = "Clinical immunology (Orlando, Fla.)",

issn = "1521-6616",

publisher = "Academic Press Inc.",

}

Smits, BM, Lelieveld, PHC, Ververs, FA, Turkenburg, M, de Koning, C, van Dijk, M, Leavis, HL, Boelens, JJ, Lindemans, CA, Bloem, AC, van de Corput, L, van Montfrans, J, Nierkens, S, van Gijn, ME, Geerke, DP, Waterham, HR, Koenderman, L & Boes, M 2020, 'A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease', Clinical immunology (Orlando, Fla.), vol. 212, 108248. https://doi.org/10.1016/j.clim.2019.108248

TY - JOUR

T1 - A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease

AU - Smits, B. M.

AU - Lelieveld, P. H. C.

AU - Ververs, F. A.

AU - Turkenburg, M.

AU - de Koning, C.

AU - van Dijk, M.

AU - Leavis, H. L.

AU - Boelens, J. J.

AU - Lindemans, C. A.

AU - Bloem, A. C.

AU - van de Corput, L.

AU - van Montfrans, J.

AU - Nierkens, S.

AU - van Gijn, M. E.

AU - Geerke, D. P.

AU - Waterham, H. R.

AU - Koenderman, L.

AU - Boes, M.

N1 - Funding Information: We thank Ninke Nieuwenhuis and Willemien Zuilhof for discussions on and reviewing of previous studies on RAC2-GAP interactions. We also would like to thank our patients for providing us with the information and samples needed to perform this study. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.

PY - 2020/3

Y1 - 2020/3

UR - https://www.scopus.com/pages/publications/85078275548

U2 - 10.1016/j.clim.2019.108248

DO - 10.1016/j.clim.2019.108248

M3 - Letter

C2 - 31382036

SN - 1521-6616

VL - 212

JO - Clinical immunology (Orlando, Fla.)

JF - Clinical immunology (Orlando, Fla.)

M1 - 108248

ER -

A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease

UN SDGs

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