Detection of genetic mutations underlying early-onset systemic lupus erythematosus

Objective We aimed to investigate the presence of monogenic causes of systemic lupus erythematosus (SLE) in our early-onset SLE patients. Methods Fifteen pediatric SLE cases who had early disease onset (≤6 years) were enrolled in this study. All patients fulfilled the Systemic Lupus International Co...

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Veröffentlicht in:	Lupus 2024-08, Vol.33 (9), p.998-1003
Hauptverfasser:	Sener, Seher, Sag, Erdal, Han, Xu, Bilginer, Yelda, Zhou, Qing, Ozen, Seza
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Age of Onset Alopecia Arthritis Baldness Bone dysplasia Child Child, Preschool DNA sequencing Endodeoxyribonucleases - genetics Exome Sequencing Female Genetic counseling Genetic Predisposition to Disease Genotypes Heterozygotes Homozygote Humans Interferon-Induced Helicase, IFIH1 Leukopenia Lupus Lupus Erythematosus, Systemic - diagnosis Lupus Erythematosus, Systemic - genetics Male Mitogen-Activated Protein Kinase Phosphatases - genetics Mutation Nephritis Pancytopenia Patients Pediatrics Phenotypes Point mutation Skeleton Systemic lupus erythematosus Thrombocytopenia Ulcers Whole genome sequencing
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