Integration of genomics in the management of refractory juvenile dermatomyositis: towards precision medicine in dermatology. A case study
DOI:
https://doi.org/10.29176/30284163.2010Keywords:
genetic syndromes, pediatrics, autoinmune disease, rare disease, exomeAbstract
Juvenile dermatomyositis (JDM) is a multisystemic and autoimmune inflammatory condition with variable and poorly understood etiology. Diagnosis has traditionally relied on clinical presentation, supported by diagnostic aids and laboratory tests. However, genomic studies are gaining increasing importance in better characterizing the role of rare and non-coding genetic variants in various myopathies. This leads to individualized management and clinical presentations of the disease. A clinical case of treatment-refractory juvenile dermatomyositis secondary to common variable immunodeficiency due to a variant in the TNFRSF13B gene is presented. Variants in the TNFRSF13B gene have been associated with diverse pathologies such as common variable immunodeficiency (CVID), selective IgA deficiency, lymphoproliferative disorders, and some autoimmune disorders like systemic lupus erythematosus and dermatomyositis. The comorbidity of CVID and rheumatologic disease has been documented as a poor prognostic factor due to inadequate response to conventional therapies and immunoglobulin replacement therapy, necessitating additional immunomodulatory treatments for managing these conditions. Genomics play a crucial role by enabling genetic sequencing studies and whole exome sequencing. This provides genetic counseling and offers personalized therapeutic options to improve patient prognosis.
Author Biographies
Johan Conquett Huertas, Universidad Libre, Cali, Colombia
Médico residente, posgrado de Dermatología, Universidad Libre, Cali
Lina Johanna Moreno Giraldo, Universidad Libre seccional Cali, Colombia
Médico pediatra. Magíster y doctorado en Ciencias Biomédicas, Genética Médica, Universidad Libre, Cali
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