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

Clin Immunol. 2020 Mar:212:108248. doi: 10.1016/j.clim.2019.108248. Epub 2019 Aug 2.

Authors

B M Smits¹, P H C Lelieveld², F A Ververs³, M Turkenburg⁴, C de Koning³, M van Dijk⁵, H L Leavis⁶, J J Boelens⁷, C A Lindemans⁸, A C Bloem³, L van de Corput³, J van Montfrans⁹, S Nierkens¹⁰, M E van Gijn¹¹, D P Geerke⁵, H R Waterham⁴, L Koenderman¹², M Boes¹³

Affiliations

¹ Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands; Laboratory of Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.
² Department of Respiratory Medicine, University Medical Center Utrecht, 3508, AB, Utrecht, The Netherlands; Laboratory of Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.
³ Laboratory of Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.
⁴ Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands.
⁵ AIMMS Division of Molecular and Computational Toxicology, Department of Chemistry and Pharmaceutical Sciences, Faculty of Science, Vrije Universiteit Amsterdam, De Boelelaan 1108, 1081 HZ Amsterdam, The Netherlands.
⁶ Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
⁷ Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands; Department of Pediatric Stem Cell Transplant and Cellular Therapies, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY 10065, United States of America; Princess Maxima Centre for Pediatric Oncology, University Medical Centre Utrecht, Utrecht, The Netherlands.
⁸ Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands; Princess Maxima Centre for Pediatric Oncology, University Medical Centre Utrecht, Utrecht, The Netherlands.
⁹ Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
¹⁰ Laboratory of Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands; Princess Maxima Centre for Pediatric Oncology, University Medical Centre Utrecht, Utrecht, The Netherlands.
¹¹ Department of Genetics and Laboratory of Translational Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
¹² Department of Respiratory Medicine, University Medical Center Utrecht, 3508, AB, Utrecht, The Netherlands.
¹³ Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: [email protected].

PMID: 31382036
DOI: 10.1016/j.clim.2019.108248

No abstract available

Publication types

Letter

MeSH terms

Adult
B-Lymphocytes / immunology
Disease Progression
GTPase-Activating Proteins / metabolism
Gain of Function Mutation
Graft vs Host Disease / drug therapy
Guanosine Triphosphate / metabolism
Hematopoietic Stem Cell Transplantation
Heterozygote
Humans
Immunologic Memory / immunology
Immunosuppressive Agents / therapeutic use
Infant
Lung Diseases / genetics*
Lung Diseases / immunology
Lung Diseases / physiopathology
Lung Diseases / surgery
Lung Transplantation
Lymphopenia / genetics*
Lymphopenia / immunology
Male
Molecular Docking Simulation
Neutrophils
Primary Immunodeficiency Diseases / genetics*
Primary Immunodeficiency Diseases / immunology
Primary Immunodeficiency Diseases / therapy
RAC2 GTP-Binding Protein
Recurrence
Respiratory Tract Infections / immunology
T-Lymphocyte Subsets / immunology
T-Lymphocytes / immunology
rac GTP-Binding Proteins / genetics*
rac GTP-Binding Proteins / immunology
rac GTP-Binding Proteins / metabolism
rac GTP-Binding Proteins / ultrastructure

Substances

GTPase-Activating Proteins
Immunosuppressive Agents
mgcRacGAP
Guanosine Triphosphate
rac GTP-Binding Proteins