基因测序技术在单基因狼疮精准诊断和机制研究中的应用现状

doi:10.12372/jcp.2023.22e1331

Abstract

Abstract:

Monogenic lupus is a general term for a class of autoimmune diseases with lupus like symptoms, which is usually diagnosed in childhood. Although it is rare for a single gene variant to cause systemic lupus erythematosus (SLE), understanding its principle is helpful for clinicians to gain a deep understanding of SLE. In recent years, with the widespread application of gene sequencing, many new variations have been discovered. This review is to further understand monogenic lupus from known variations and pathogenic pathways, in order to provide a new development direction for patients with lupus to find more accurate diagnostic markers and formulate more personalized treatments, and also to provide possible targets for the research and development of new drugs for such disease.

Key words: monogenic lupus, whole genome sequencing, systemic lupus erythematosus, variation

YANG Zhibo, LIU Li. Application of gene sequencing technology in precise diagnosis and mechanism research of monogenic lupus[J].Journal of Clinical Pediatrics, 2023, 41(9): 715-720.

References 30

[1]	Demirkaya E, Sahin S, Romano M, et al. New horizons in the genetic etiology of systemic lupus erythematosus and lupus-like disease: monogenic lupus and beyond[J]. J Clin Med, 2020, 9(3): 712. doi: 10.3390/jcm9030712
[2]	Al-Mayouf SM, Alreefi HA, Alsinan TA, et al. Lupus manifestations in children with primary immunodeficiency diseases: comprehensive phenotypic and genetic features and outcome[J]. Mod Rheumatol, 2021, 31(6): 1171-1178. doi: 10.1080/14397595.2021.1886627
[3]	Al-Mayouf SM, Akbar L, Abdwani R, et al. Performance of the EULAR/ACR 2019 classification criteria for systemic lupus erythematous in monogenic lupus[J]. Clin Rheumatol, 2022, 41(9): 2721-2727. doi: 10.1007/s10067-022-06209-9
[4]	Tirosh I, Spielman S, Barel O, et al. Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies[J]. Pediatr Rheumatol Online J, 2019, 17(1): 52. doi: 10.1186/s12969-019-0349-y pmid: 31362757
[5]	Li G, Liu H, Li Y, et al. Genetic heterogeneity in Chinese children with systemic lupus erythematosus[J]. Clin Exp Rheumatol, 2021, 39(1): 214-222. doi: 10.55563/clinexprheumatol/zte897 pmid: 33337996
[6]	Almlöf JC, Nystedt S, Leonard D, et al. Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus[J]. Hum Genet, 2019, 138(2): 141-150. doi: 10.1007/s00439-018-01966-7 pmid: 30707351
[7]	Lundtoft C, Sjöwall C, Rantapää-Dahlqvist S, et al. Combined genetic deficiencies of the classical complement pathway are strongly associated with both systemic lupus erythematosus and primary Sjögren's syndrome[J]. Arthritis Rheumatol, 2022, 74(11): 1842-1850. doi: 10.1002/art.v74.11
[8]	Shukla A, Gaur P. Hereditary C1 inhibitor deficiency associated with systemic lupus erythematosus[J]. Lupus, 2020, 29(11): 1456-1460. doi: 10.1177/0961203320935980
[9]	Pakzad B, Shirpour R, Mousavi M, et al. C1QTNF4 gene p.His198Gln mutation is correlated with early-onset systemic lupus erythematosus in Iranian patients[J]. Int J Rheum Dis, 2020, 23(11): 1594-1598. doi: 10.1111/apl.v23.11
[10]	Omarjee O, Picard C, Frachette C, et al. Monogenic lupus: dissecting heterogeneity[J]. Autoimmun Rev, 2019, 18(10): 102361. doi: 10.1016/j.autrev.2019.102361
[11]	Tak AS, Satapathy J, Jana M, et al. Monogenic lupus with homozygous C4A deficiency presenting as bronchiectasis and immune-mediated thrombocytopenia[J]. Rheumatol Int, 2022, 42(8): 1477-1482. doi: 10.1007/s00296-021-04943-y
[12]	Gezgin Yıldırım D, Bakkaloğlu SA. Monogenic lupus caused by mutations in DNASE1L3: a rare cause of systemic lupus erythematosus in children[J]. Scand J Immunol, 2022, 95(6): e13162. doi: 10.1111/sji.v95.6
[13]	Chan RWY, Serpas L, Ni M, et al. Plasma DNA profile associated with DNASE1L3gene mutations: clinical observations, relationships to nuclease substrate preference, and in vivo correction[J]. Am J Hum Genet, 2020, 107(5): 882-894. doi: 10.1016/j.ajhg.2020.09.006
[14]	Hartl J, Serpas L, Wang Y, et al. Autoantibody-mediated impairment of DNASE1L3 activity in sporadic systemic lupus erythematosus[J]. J Exp Med, 2021, 218(5): e20201138. doi: 10.1084/jem.20201138
[15]	Kisla Ekinci RM, Balci S, Ozcan D, et al. Monogenic lupus due to DNASE1L3 deficiency in a pediatric patient with urticarial rash, hypocomplementemia, pulmonary hemorrhage, and immune-complex glomerulonephritis[J]. Eur J Med Genet, 2021, 64(9): 104262. doi: 10.1016/j.ejmg.2021.104262
[16]	Wang W, Wang W, He TY, et al. Analysis of clinical characteristics of children with aicardi-goutieres syndrome in China[J]. World J Pediatr, 2022, 18(7): 490-497. doi: 10.1007/s12519-022-00545-1 pmid: 35551623
[17]	Tusseau M, Lovšin E, Samaille C, et al. DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling[J]. J Clin Immunol, 2022, 42(6): 1310-1320. doi: 10.1007/s10875-022-01287-5 pmid: 35670985
[18]	Sait H, Gangadharan H, Gupta A, et al. Monogenic lupus with IgA nephropathy caused by spondyloenchondrodysplasia with immune dysregulation[J]. Indian J Pediatr, 2021, 88(8): 819-823. doi: 10.1007/s12098-020-03636-x pmid: 33712926
[19]	Ünlü B, Türsen Ü, Jabalameli N, et al. Immunogenetics of lupus erythematosus[J]. Adv Exp Med Biol, 2022, 1367: 213-257. doi: 10.1007/978-3-030-92616-8_9 pmid: 35286698
[20]	Kara B, Ekinci Z, Sahin S, et al. Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review[J]. Rheumatol Int, 2020, 40(11): 1903-1910. doi: 10.1007/s00296-020-04653-x pmid: 32691099
[21]	Brown GJ, Cañete PF, Wang H, et al. TLR7 gain-of-function genetic variation causes human lupus[J]. Nature, 2022, 605(7909): 349-356. doi: 10.1038/s41586-022-04642-z
[22]	Asano T, Boisson B, Onodi F, et al. X-linked recessive TLR7 deficiency in -1% of men under 60 years old with life-threatening COVID-19[J]. Sci Immunol, 2021, 6(62): eabl4348. doi: 10.1126/sciimmunol.abl4348
[23]	He Y, Gallman AE, Xie C, et al. P2RY8 variants in lupus patients uncover a role for the receptor in immunological tolerance[J]. J Exp Med, 2022, 219(1): e20211004. doi: 10.1084/jem.20211004
[24]	Liphaus BL, Caramalho I, Rangel-Santos A, et al. LRBA deficiency: a new genetic cause of monogenic lupus[J]. Ann Rheum Dis, 2020, 79(3): 427-428. doi: 10.1136/annrheumdis-2019-216410
[25]	Su G, Lai J, Zhu J, et al. Analysis of five cases of monogenic lupus related to primary immunodeficiency diseases[J]. Inflamm Res, 2021, 70(10-12): 1211-1216. doi: 10.1007/s00011-021-01479-6 pmid: 34559261
[26]	Seo E, Lee BH, Lee JH, et al. Hematopoietic stem cell transplantation in an infant with dedicator of cytokinesis 8 (DOCK8) deficiency associated with systemic lupus erythematosus: a case report[J]. Medicine (Baltimore), 2021, 100(13): e20866. doi: 10.1097/MD.0000000000020866
[27]	Martínez-Bueno M, Alarcón-Riquelme ME. Exploring impact of rare variation in systemic lupus erythematosus by a genome wide imputation approach[J]. Front Immunol, 2019, 10: 258. doi: 10.3389/fimmu.2019.00258 pmid: 30863397
[28]	Dasdemir S, Yildiz M, Celebi D, et al. Genetic screening of early-onset patients with systemic lupus erythematosus by a targeted next-generation sequencing gene panel[J]. Lupus, 2022, 31(3): 330-337. doi: 10.1177/09612033221076733
[29]	Akbar L, Alsagheir R, Al-Mayouf SM. Efficacy of a sequential treatment by belimumab in monogenic systemic lupus erythematosus[J]. Eur J Rheumatol, 2020, 7(4): 184-189. doi: 10.5152/eurjrheumatol.
[30]	Zecevic M, Minic A, Pasic S, et al. Case report: early onset systemic lupus erythematosus due to hereditary C1q deficiency treated with fresh frozen plasma[J]. Front Pediatr, 2021, 9: 756387. doi: 10.3389/fped.2021.756387

Application of gene sequencing technology in precise diagnosis and mechanism research of monogenic lupus

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