Combined Single Nucleotide Variants of ORAI1 and BLK in a Child with Refractory Kawasaki Disease
Abstract
1. Introduction
2. Case Presentation
3. Genetic Analysis
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Day of Illness | ||||||
---|---|---|---|---|---|---|
3 | 10 | 12 | 14 | 30 | 84 | |
White Blood Cell (/μL) | 13,500 | 37,600 | 37,300 | 29,100 | 13,600 | 10,800 |
Neutrophil (/μL) | 10,700 | 21,400 | 18,500 | 11,800 | 5000 | 5000 |
Platelet Cell (×109/L) | 297 | 667 | 808 | 815 | 485 | 369 |
Albumin (g/L) | 42 | 26 | 28 | 27 | 37 | NA (g) |
CRP (a) (mg/L) | 156.0 | 32.2 | 59.1 | 88.1 | 23.1 | NA (g) |
NT-pro-BNP (b) (pg/mL) | 4560.0 | 1406.5 | 633.5 | 514.7 | 328.1 | NA (g) |
AST (c) (U/L) | 174 | 29 | 27 | 26 | 30 | NA (g) |
ALT (d) (U/L) | 106 | 33 | 23 | 23 | 10 | NA (g) |
Diameter of LAD (e) (mm) | 1.5 [0.6] | 2.9 [6.0] | 3.6 [9.2] | 4.8 [14.8] | 6.3 [21.8] | 6.0 [20.2] |
Diameter of RCA (f) (mm) | 1.5 [0.4] | 4.0 [8.2] | 4.0 [8.2] | 5.6 [13.7] | 9.9 [28.2] | 8.5 [23.3] |
ORAI1 | CD40 | BLK | FCGR2A | CASP3 | ITPKC | HLA |
---|---|---|---|---|---|---|
rs868908978 | rs4813003 | rs2254546 | rs10401344 | rs113420705 | rs28493229 | rs2857151 |
rs141919534 | rs4810485 | rs2736340 | rs17713068 | |||
rs782675422 | rs6074022 | rs13277113 | rs2233152 | |||
rs543433737 | rs3746821 | rs2618476 | es10403040 | |||
rs781980977 | rs1569723 | rs12680762 | rs1801274 | |||
rs3741595 | rs1883832 | rs2736340 | ||||
rs782238081 | rs1569723 | rs6993775 | ||||
rs3741596 | rs4813003 | rs1382566 | ||||
rs782308800 | rs199581355 | |||||
rs782722476 | ||||||
rs377456337 | ||||||
rs200214435 | ||||||
rs3741597 | ||||||
rs781789915 | ||||||
rs3825174 | ||||||
rs3825175 | ||||||
rs555170508 | ||||||
rs375464035 | ||||||
rs12313273 | ||||||
rs6486789 | ||||||
rs117324670 | ||||||
rs7484839 | ||||||
rs7486943 | ||||||
rs712853 |
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Kanda, S.; Fujii, Y.; Hori, S.-i.; Ohmachi, T.; Yoshimura, K.; Higasa, K.; Kaneko, K. Combined Single Nucleotide Variants of ORAI1 and BLK in a Child with Refractory Kawasaki Disease. Children 2021, 8, 433. https://doi.org/10.3390/children8060433
Kanda S, Fujii Y, Hori S-i, Ohmachi T, Yoshimura K, Higasa K, Kaneko K. Combined Single Nucleotide Variants of ORAI1 and BLK in a Child with Refractory Kawasaki Disease. Children. 2021; 8(6):433. https://doi.org/10.3390/children8060433
Chicago/Turabian StyleKanda, Saki, Yoshimitsu Fujii, Shin-ichiro Hori, Taichi Ohmachi, Ken Yoshimura, Koichiro Higasa, and Kazunari Kaneko. 2021. "Combined Single Nucleotide Variants of ORAI1 and BLK in a Child with Refractory Kawasaki Disease" Children 8, no. 6: 433. https://doi.org/10.3390/children8060433
APA StyleKanda, S., Fujii, Y., Hori, S.-i., Ohmachi, T., Yoshimura, K., Higasa, K., & Kaneko, K. (2021). Combined Single Nucleotide Variants of ORAI1 and BLK in a Child with Refractory Kawasaki Disease. Children, 8(6), 433. https://doi.org/10.3390/children8060433