Letter to the editorImpaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis
References (11)
- et al.
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations
J Allergy Clin Immunol
(2014) - et al.
Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome
Blood
(2009) - et al.
Partial V(D)J recombination activity leads to Omenn syndrome
Cell
(1998) - et al.
Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation
Blood
(2009) - et al.
An immunodeficiency disease with RAG mutations and granulomas
N Engl J Med
(2008)
Cited by (27)
Monogenic lupus: Tracing the therapeutic implications from single gene mutations
2023, Clinical ImmunologyConcepts in lupus pathophysiology: Lessons learned from disease across the spectrum
2022, Clinical ImmunologySystemic lupus erythematosus as a genetic disease
2022, Clinical ImmunologyThe pathogenesis of systemic lupus erythematosus: Harnessing big data to understand the molecular basis of lupus
2020, Journal of AutoimmunityCitation Excerpt :Mutations in genes involved in nucleic acid metabolism and sensing, such as TREX1, RNASEH2B(A,C), ADAR, IFIH1 and SAMHD1 induce a chronic type I IFN response and are linked to the development of SLE-like features [15–18]. Single gene defects in DNASE1 and DNASE1L3, which control nucleic acid degradation [19,20], and PRKCD and RAG2 involved in tolerance [21,22] are also associated with monogenic forms of lupus-like disease. Whereas the full extent of monogenic lupus is unknown, next generation sequencing techniques using array-based genotyping platforms may enable the discovery of additional single-gene defects and reveal the full extent of monogenic lupus.
Monogenic lupus
2020, Systemic Lupus Erythematosus: Basic, Applied and Clinical AspectsMonogenic lupus: Dissecting heterogeneity
2019, Autoimmunity ReviewsCitation Excerpt :Finally, recombination-activating 1 or 2 genes (RAG1/2) represents a crucial enzyme involved in the V(D)J recombination and BCR to TCR variability generation. While loss-of-function RAG mutations are associated with severe combined immunodeficiencies, hypomorphic mutations have been linked to autoimmunity [82-84. Interestingly a RAG2 mutation has been reported in a lupus patient [82].
This work was partly supported by the National Institute of Allergy and Infectious Diseases, National Institutes of Health (grant no. 5P01AI076210-04 and grant no. U54AI082973 to L.D.N., grant no. 5K08AI103035 to J.E.W., and grant no. R01 AI 42269 to G.C.T.), the Manton Foundation (L.D.N.), the Lupus Research Institute (March of Dimes grant no. 1-FY13-500 to E.T.L.P. and J.D.), and the Jeffrey Modell Foundation (to L.D.N.).
Disclosure of potential conflict of interest: J. E. Walter has received federal funding, is employed by Massachusetts General Hospital, and has received research support from the National Institute of Allergy and Infectious Diseases in the form of the K08 Award. Y. N. Lee is employed by Boston Children's Hospital. G. C. Tsokos has received research support from the National Institutes of Health (grant no. R01 AI 42269); has received fees for participation in review activities from Lily, EMD, Serono, Biogen, and GlaxoSmithKline; and has received consultancy fees from Sanofi and Questcor. E. T. Luning Prak has received research support from the Lupus Research Institute and the National Institutes of Health (grant no. R01 AR 34156); has received lecture fees from Janssen Pharmaceuticals; and has a patent application filed with the University of Pennsylvania for RS rearrangement assay. L. D. Notarangelo has received research support from the National Institute of Allergy and Infectious Diseases and the National Institutes of Health (grant nos. 5P01 AI076210-04 and U54AI082973), the March of Dimes (grant no. 1-FY13-500), and the Jeffrey Modell Foundation; is on the National Institute of Allergy and Infectious Diseases Board of Scientific Counselors; and has received royalties from UpToDate. The rest of the authors declare that they have no relevant conflicts of interest.