An early-onset SLE patient with a novel paternal inherited BACH2 mutation

BACH2-related immunodeficiency and autoimmunity (BRIDA) is an inborn error of immunity, newly reported in 2017, presenting with symptoms of immunoglobulin deficiency and ongoing colitis. Studies using a mouse model have demonstrated that BACH2 deficiency predisposes individuals to systemic lupus ery...

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Veröffentlicht in:	Journal of clinical immunology 2023-08, Vol.43 (6), p.1367-1378
Hauptverfasser:	Zhou, Lina, Sun, Gan, Chen, Ran, Chen, Junjie, Fang, Shuyu, Xu, Qiling, Tang, Wenjing, Dai, Rongxin, Zhang, Zhiyong, An, Yunfei, Tang, Xuemei, Zhao, Xiaodong
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Antibodies Autoimmunity Biomedical and Life Sciences Biomedicine Children & youth Colitis Dermatomyositis Families & family life Gene silencing Genes Hospitals Immune system Immunodeficiency Immunoglobulin A Immunoglobulins Immunological memory Immunology Infectious Diseases Internal Medicine Lupus Lymphoblastoid cell lines Lymphocytes Lymphocytes B Medical Microbiology Memory cells Mutation Original Article Patients Point mutation Prednisone Sequence analysis Software Systemic lupus erythematosus
Online-Zugang:	Volltext
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