Trisomy X in a patient with childhood-onset systemic lupus erythematosus

Author(s)

Barbosa, Fernanda B. ^[1] ; Sinicato, Nailu Angelica ^{[2, 3]} ; Julio, Paulo Rogerio ^{[2, 3]} ; Londe, Ana Carolina ^{[2, 3]} ; Marini, Roberto ^[4] ; Gil-da-Silva-Lopes, Vera L. ^[5] ; Appenzeller, Simone ^{[3, 6]}

Affiliation

^[1] State Univ North Fluminense UENF, Ctr Biosci & Biotechnol, Lab Recognit Biol, Campos Dos Goytacazes, RJ - Brazil

^[2] Univ Estadual Campinas, Sch Med Sci, Grad Program Child & Adolescent Hlth, Campinas, SP - Brazil

^[3] Univ Estadual Campinas, Sch Med Sci, Lab Autoimmune Dis, Campinas, SP - Brazil

^[4] Univ Estadual Campinas, Sch Med Sci, Dept Pediat, Campinas, SP - Brazil

^[5] Univ Estadual Campinas, Sch Med Sci, Dept Med Genet & Genom Med, Campinas, SP - Brazil

^[6] Univ Estadual Campinas, Dept Med, Rheumatol Unit, Sch Med Sci, Campinas, SP - Brazil

• Document type: Journal article
• Source: JOURNAL OF TRANSLATIONAL AUTOIMMUNITY; v. 3, 2020.
• Web of Science Citations: 1

Abstract

Childhood-onset systemic lupus erythematosus (cSLE) is a rare, chronic and systemic autoimmune disease generally with a more severe clinical phenotype than the adult-onset SLE. In both conditions, it is known that females are predominantly affected; therefore, the possible overlap of SLE and sex chromosomal abnormalities has attracted attention. Our case report describe the clinical manifestations and immunological profile of a Brazilian female with cSLE and trisomy X. The 22 year-old patient, diagnosed with cSLE at age of 11, present some features related to 47, XXX, such as difficulties at school and communication, although this was not enough to investigate for chromosome abnormalities. Cytoscan HD array screening allowed the comprehensive diagnosis for this patient. We also characterized her ancestral composition, showing that she has 6.2% higher African component than the mean from health subjects from the same geographical area. This report reinforces the role of the X chromosome dose effect for sex bias in SLE, as well as the importance of African ancestry composition in cLES. It also throws lights upon the application of high-throughput molecular analysis in a large scale cohort can be useful to detect the impact of the genomic findings for more accurate epidemiological data. (AU)

• FAPESP's process: 19/06632-5 - Longitudinal evaluation of microstructural cerebral changes evaluated through MRI spectroscopy, pro-inflammatory cytokines and neuronal markers in systemic lupus erythematosus
• Grantee: Simone Appenzeller
• Support Opportunities: Regular Research Grants
• FAPESP's process: 08/02917-0 - Blood and cerebrospinal fluid biomarkers associated with structural and functional central nervous system abnormalities in systemic lupus erythematosus
• Grantee: Simone Appenzeller
• Support Opportunities: Research Grants - Young Investigators Grants