1. Shen J, Jiang L, Gao Y, Ou R, Yu S, Yang B et al. A novel RAG1 mutation in a compound heterozygous status in a child with Omenn syndrome. Front Genet 2019;10:913. https://doi.org/10.3389/fgene.2019.00913
2. Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Cunningham-Rundles C, et al.. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 2014;5:78108. https://doi.org/10.3389/fimmu.2014.00162
3. Cossu F. Genetics of SCID. Ital J Pediatr 2010;36(1):76.
https://doi.org/10.1186/1824-7288-36-76
4. Ogando JCB, Gaytán AP, Becerra JCA, Cardona AÁ, Bezrodnik L, Borzutzky A, et al. Latin American consensus on the supportive management of patients with severe combined immunodeficiency. J Allergy Clin Immunol 2019;144(4):897-905. https://doi.org/10.1016/j.jaci.2019.08.002
5. Gennery A, Cant A. Diagnosis of severe combined immunodeficiency. J Clin Pathol 2001;54(3):191-5. https://doi.org/10.1136/jcp.54.3.191
6. Schatz DG, Swanson PC. V(D)J recombination: mechanisms of initiation. Annu Rev Genet 2011;45(1):167-202. https://doi.org/10.1146/annurev-genet-110410-132552
7. Tonegawa S. Somatic generation of antibody diversity. Nature 1983;302(5909):575-81. https://doi.org/10.1038/302575a0
8. Gellert M. V(D)J recombination: RAG proteins, repair factors, and regulation. Annu Rev Biochem 2002;71(1):101-32. https://doi:10.1146/annurev.biochem.71.090501.150203
9. Thwaites DT. Novel insights into the biochemical mechanisms of RAG1 and RAG2 using mutational approaches (Doctoral dissertation, University of Leeds);2019.
10. Notarangelo LD, Kim M-S, Walter JE, Lee YN. Human RAG mutations: biochemistry and clinical implications. Nat Rev Immunol 2016;16(4):234-46. https://doi:10.1038/nri.2016.28
11. Rieux-Laucat F, Bahadoran P, Brousse N, Selz F, Fischer A, Le Deist F, et al. Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn’s syndrome. J Clin Invest 1998;102(2):312-21. https://doi:10.1172/JCI332
12. Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, et al. Partial V(D)J recombination activity leads to Omenn syndrome. Cell 1998;93(5):885-96. https://doi:10.1016/s0092-8674(00)81448-8
13. Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, et al. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood 2001;97(1):81-8. https://doi:10.1182/blood.v97.1.81
14. Al-Mousa H, Al-Saud B. Primary immunodeficiency disease in highly consanguineous populations from Middle East and South Africa: Epidemiology, diagnosis and care. Front Immunol 2017;8:678. https://doi:10.3389/fimmu.2017.00678. eCollection2017
15. Raza SI, Nasser Dar R, Shah AA, Ahmad W. A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1. Ann Hum Genet 2015;79(2):92-8.https://doi:10.1111/ahg.12094
16. Schatz DG. Transposition mediated by RAG1 and RAG2 and the evolution of the adaptive immune system. Immunol Res1999;19(2-3);169-82. https://doi:10.1007/BF02786485
17. McBlane JF, van Gent DC, Ramsden DA, Romeo C, Cuomo CA, Gellert M, et al. Cleavage at a V (D) J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps. Cell 1995;3;83(3):387-95. https://doi:10.1016/0092-8674(95)90116-7
18. Lawless D, Lango Allen H, Thaventhiran J, Hodel F, Anwar R, Fellay J et al. Predicting the Occurrence of Variants in RAG1 and RAG2. J Clin Immunol 2019;39(7);688-01. https://doi:10.1007/s10875-019-00670-z
19. Santagata S, Gomez CA, Sobacchi C, Bozzi F, Abinun M, Pasic S, et al. N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V (D) J recombination activity and reveals a fundamental role in vivo for the N-terminal domains. Proc Natl Acad Sci 2000;97(26);14572-7. https://doi:10.1073/pnas.97.26.14572
Comments (0)