A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment
JCR-JOURNAL OF CLINICAL RHEUMATOLOGY(2021)
摘要
Background Tumor necrosis factor alpha-induced protein 3 gene (TNFAIP3, also called A20) haploinsufficiency (HA20) leads to autoinflammation and autoimmunity. We have recently shown that a p.(Lys91*) mutation in A20 disrupts nuclear factor kappa B signaling, impairs protein-protein interactions of A20, and leads to inflammasome activation. Methods We now describe the clinical presentations and drug responses in a family with HA20 p.(Lys91*) mutation, consistent with our previously reported diverse immunological and functional findings. Results We report for the first time that inflammasome-mediated autoinflammatory lung reaction caused by HA20 can be treated with interleukin 1 antagonist anakinra. We also describe severe anemia related to HA20 successfully treated with mycophenolate. In addition, HA20 p.(Lys91*) was found to associate with autoimmune thyroid disease, juvenile idiopathic arthritis, psoriasis, liver disease, and immunodeficiency presenting with specific antibody deficiency and genital papillomatosis. Conclusions We conclude that HA20 may lead to combination of inflammation, immunodeficiency, and autoimmunity. The condition may present with variable and unpredictable symptoms with atypical treatment responses.
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关键词
anakinra,anemia,autoimmunity,autoinflammation,immunodeficiency,lung disease,mycophenolate
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