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Autosomal dominant form of SCID due to gain-of-function RAC2 mutation
References
1. Cavazzana M, Bushman FD, Miccio A, André-Schmutz I, Six E. Gene therapy tar- geting haematopoietic stem cells for inherit- ed diseases: progress and challenges. Nat Rev Drug Discov. 2019;18(6):447-462.
2. Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primers. 2015;1(1):15061.
3. PicardC,BobbyGasparH,Al-HerzW,etal. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018; 38(1):96-128.
4. de Vaal O, Seynhaeve V. Reticular dysgene- sia. Lancet. 1959;2(7112):1123-1125.
5. PannickeU,HönigM,HessI,etal.Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondr- ial adenylate kinase 2. Nat Genet. 2009;41(1):101-105.
6. Lagresle-Peyrou C, Six EM, Picard C, et al. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet. 2009;41(1):106-111.
7. SixE,Lagresle-PeyrouC,SusiniS,etal.AK2 deficiency compromises the mitochondrial energy metabolism required for differentia- tion of human neutrophil and lymphoid lin- eages. Cell Death Dis. 2015;6:e1856.
8. Troeger A, Williams DA. Hematopoietic- specific Rho GTPases Rac2 and RhoH and human blood disorders. Exp Cell Res. 2013; 319(15):2375-2383.
9. Nayak RC, Chang K-H, Vaitinadin N-S, Cancelas JA. Rho GTPases control specific cytoskeleton-dependent functions of hematopoietic stem cells. Immunol Rev. 2013;256(1):255-268.
10. Gu Y, Filippi M-D, Cancelas JA, et al. Hematopoietic cell regulation by Rac1 and Rac2 guanosine triphosphatases. Science. 2003;302(5644):445-449.
11. Shirsat NV, Pignolo RJ, Kreider BL, Rovera G. A member of the ras gene superfamily is expressed specifically in T, B and myeloid hemopoietic cells. Oncogene. 1990;5(5):769- 772.
12. Gu Y, Byrne MC, Paranavitana NC, et al. Rac2, a hematopoiesis-specific Rho GTPase, specifically regulates mast cell protease gene expression in bone marrow- derived mast cells. Mol Cell Biol. 2002;22(21):7645-7657.
13. André-Schmutz I, Le Deist F, Hacein-Bey- Abina S, et al. Immune reconstitution with-
out graft-versus-host disease after haemopoietic stem-cell transplantation: a phase 1/2 study. Lancet. 2002; 360(9327): 130-137.
14. Olson MF. Rho GTPases, their post-transla- tional modifications, disease-associated mutations and pharmacological inhibitors. Small GTPases. 2018;9(3):203-215.
15. Ambruso DR, Knall C, Abell AN, et al. Human neutrophil immunodeficiency syn- drome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci U S A. 2000; 97(9):4654-4659.
16. Accetta D, Syverson G, Bonacci B, et al.
Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia. J Allergy Clin Immunol. 2011;127(2):535-538.e1-2.
17. Alkhairy OK, Rezaei N, Graham RR, et al. RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency. J Allergy Clin Immunol. 2015;135(5):1380-1384.e1-5.
18. Lougaris V, Chou J, Beano A, et al. A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency. J Allergy Clin Immunol. 2019;143(4):1649- 1653.e3.
19. Hsu AP, Donkó A, Arrington ME, et al. Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects. Blood. 2019; 133(18):1977-1988.
20. Sharapova SO, Haapaniemi E, Sakovich IS, et al. Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections. Clin Immunol. 2019;205:1-5.
21. Scheffzek K, Stephan I, Jensen ON, Illenberger D, Gierschik P. The Rac-RhoGDI complex and the structural basis for the reg- ulation of Rho proteins by RhoGDI. Nat Struct Biol. 2000;7(2):122-126.
22. Hunter JC, Manandhar A, Carrasco MA, Gurbani D, Gondi S, Westover KD. Biochemical and structural analysis of com- mon cancer-associated KRAS mutations. Mol Cancer Res. 2015;13(9):1325-1335.
23. Illenberger D, Walliser C, Strobel J, et al. Rac2 regulation of phospholipase C-beta 2 activity and mode of membrane interactions in intact cells. J Biol Chem. 2003;278(10):8645-8652.
24. Reimann C, Six E, Dal-Cortivo L, et al. Human T-lymphoid progenitors generated in a feeder-cell-Free delta-like-4 culture sys- tem promote T-cell reconstitution in NOD/SCID/γc−/− Mice. Stem Cells. 2012; 30(8):1771-1780.
25. Grimsley-Myers CM, Sipe CW, Wu DK, Lu X. Redundant functions of Rac GTPases in inner ear morphogenesis. Dev Biol. 2012; 362(2):172-186.
26. Mulloy JC, Cancelas JA, Filippi M-D, Kalfa TA, Guo F, Zheng Y. Rho GTPases in hematopoiesis and hemopathies. Blood. 2010;115(5):936-947.
27. Lorès P, Morin L, Luna R, Gacon G. Enhanced apoptosis in the thymus of trans- genic mice expressing constitutively activat- ed forms of human Rac2GTPase. Oncogene. 1997;15(5):601-605.
28. Tao W, Filippi M-D, Bailey JR, et al. The TRQQKRP motif located near the C-termi- nus of Rac2 is essential for Rac2 biologic functions and intracellular localization. Blood. 2002;100(5):1679-1688.
29. Canman JC, Lewellyn L, Laband K, et al. Inhibition of Rac by the GAP activity of cen- tralspindlin is essential for cytokinesis. Science. 2008;322(5907):1543-1546.
30. Normand G, King RW. Understanding cytokinesis failure. Adv Exp Med Biol. 2010; 676:27-55.
31. Verma V, Mogilner A, Maresca TJ. Classical and emerging regulatory mechanisms of cytokinesis in animal cells. Biology (Basel). 2019;8(3).
32. Moulding DA, Moeendarbary E, Valon L,
Record J, Charras GT, Thrasher AJ. Excess F- actin mechanically impedes mitosis leading to cytokinesis failure in X-linked neutrope- nia by exceeding Aurora B kinase error cor- rection capacity. Blood. 2012;120(18):3803- 3811.
33. Zhang Q, Dove CG, Hor JL, et al. DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity. J Exp Med. 2014; 211(13):2549-2566.
34. Al Ustwani O, Kurzrock R, Wetzler M. Genetics on a WHIM. Br J Haematol. 2014; 164(1):15-23.
35. Moore AS, Wong YC, Simpson CL, Holzbaur ELF. Dynamic actin cycling through mitochondrial subpopulations locally regulates the fission-fusion balance within mitochondrial networks. Nat Commun. 2016;7:12886.
36. Capala ME, Maat H, Bonardi F, et al. Mitochondrial dysfunction in human leukemic stem/progenitor cells upon loss of RAC2. PLoS One. 2015;10(5):e0128585.
37. Capala ME, Pruis M, Vellenga E, Schuringa JJ. Depletion of SAM50 specifically targets BCR-ABL-expressing leukemic stem and progenitor cells by interfering with mito- chondrial functions. Stem Cells Dev. 2016; 25(5):427-437.
38. Pei H, Zhang J, Nie J, et al. RAC2-P38 MAPK-dependent NADPH oxidase activity is associated with the resistance of quiescent cells to ionizing radiation. Cell Cycle. 2017; 16(1):113-122.
39. Nieborowska-Skorska M, Kopinski PK, Ray R, et al. Rac2-MRC-cIII-generated ROS cause genomic instability in chronic myeloid leukemia stem cells and primitive progeni- tors. Blood. 2012;119(18):4253-4263.
40. Ježek J, Cooper KF, Strich R. Reactive oxy- gen species and mitochondrial dynamics: the yin and yang of mitochondrial dysfunc- tion and cancer progression. Antioxidants (Basel). 2018;7(1).
41. Bigarella CL, Liang R, Ghaffari S. Stem cells and the impact of ROS signaling. Development. 2014;141(22):4206-4218.
42. Ansó E, Weinberg SE, Diebold LP, et al. The mitochondrial respiratory chain is essential for haematopoietic stem cell function. Nat Cell Biol. 2017;19(6):614-625.
43. Bunney TD, Opaleye O, Roe SM, et al. Structural insights into formation of an active signaling complex between Rac and phospholipase C gamma 2. Mol Cell. 2009; 34(2):223-233.
44. Edling CE, Pedersen M, Carlsson L, Rönnstrand L, Palmer RH, Hallberg B. Haematopoietic progenitor cells utilise con- ventional PKC to suppress PKB/Akt activity in response to c-Kit stimulation. Br J Haematol. 2007;136(2):260-268.
45. Elich M, Sauer K. Regulation of hematopoi- etic cell development and function through phosphoinositides. Front Immunol. 2018; 9:931.
46. Smits BM, Lelieveld PHC, Ververs FA, et al. A dominant activating RAC2 variant associ- ated with immunodeficiency and pul- monary disease. Clin Immunol. 2019: 108248.
47. Notarangelo LD, Kim M-S, Walter JE, Lee YN. Human RAG mutations: biochemistry and clinical implications. Nat Rev Immunol. 2016;16(4):234-246.
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