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

Autor(es)

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]}

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF TRANSLATIONAL AUTOIMMUNITY; v. 3, 2020.
• Citações Web of Science: 1

Resumo

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)

• Processo FAPESP: 19/06632-5 - Avaliação longitudinal de alterações microestruturais cerebrais através da espectroscopia de prótons por ressonância magnética, citocinas pró-inflamatórias e marcadores neuronais em pacientes com Lúpus Eritematoso Sistêmico
• Beneficiário: Simone Appenzeller
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 08/02917-0 - Determinação de marcadores séricos e do líquor associados a alterações estruturais e funcionais do sistema nervoso central no lúpus eritematoso sistêmico
• Beneficiário: Simone Appenzeller
• Modalidade de apoio: Auxílio à Pesquisa - Jovens Pesquisadores