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- Title
Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation.
- Authors
Liu, Ming; Lu, Bingtai; Zeng, Ping; Huang, Bing; Xu, Yanhui; Liang, Hanquan; Yang, Diyuan; Yang, Sida; Luo, Hai-bin; Lew, Andrew M.; Masters, Seth L.; Geng, Lanlan; Zeng, Huasong; Zhang, Yuxia
- Abstract
PD-1 SP hi sp CXCR5 SP - sp CD4 SP + sp T cells promote B cell antibody production in patients with autoantibody positive rheumatoid arthritis (RA) [[5]] and systemic lupus erythematosus (SLE) [[6]]. Although the exact functions of the CD19 SP + sp CD21 SP - sp B cells and PD-1 SP hi sp CXCR5 SP - sp CD4 SP + sp T cells in the patient were not clear, we speculated that they were related to the recurrent infections and post-infection transient autoimmune symptoms in the patient. Prolonged treatment of atypical fungal-skin infections with immune suppressive agents despite of the B cell deficiency potentially contributed to the rapid disease progression in the patient. Similar treatment in a previously reported 14-year old female patient with I IL12RB1 i mutations (p.P233 E234insVGLVLIA), who also showed B cell deficiency and inflammatory symptoms (systemic lupus erythematosus), had also resulted in fatality [[14]].
- Subjects
BLOOD cell count; T helper cells; T cell receptors; IMMUNOLOGICAL deficiency syndromes
- Publication
Journal of Clinical Immunology, 2020, Vol 40, Issue 4, p647
- ISSN
0271-9142
- Publication type
Letter
- DOI
10.1007/s10875-020-00771-0