Combined Single Nucleotide Variants of ORAI1 and BLK in a Child with Refractory Kawasaki Disease

Kawasaki disease (KD) is a systemic vasculitis with an unknown etiology affecting young children. Although intravenous immunoglobulin (IVIG) plus acetylsalicylic acid is effective in most cases, approximately 10–20% of patients do not respond to this therapy. An 8-month-old boy was admitted to a loc...

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Bibliographic Details
Published in:Children (Basel) 2021-06, Vol.8 (6), p.433
Main Authors: Kanda, Saki, Fujii, Yoshimitsu, Hori, Shin-ichiro, Ohmachi, Taichi, Yoshimura, Ken, Higasa, Koichiro, Kaneko, Kazunari
Format: Article
Language:English
Subjects:
BLK
Case Report
Coronary vessels
cyclosporine A
Cytokines
Fever
Genomes
Illnesses
Kawasaki disease
Kinases
Laboratories
Lymphocytes
Monoclonal antibodies
ORAI1
Pathogenesis
Patients
Pediatrics
refractory Kawasaki disease
Signal transduction
single nucleotide variant
Tumor necrosis factor-TNF
Veins & arteries
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Summary:Kawasaki disease (KD) is a systemic vasculitis with an unknown etiology affecting young children. Although intravenous immunoglobulin (IVIG) plus acetylsalicylic acid is effective in most cases, approximately 10–20% of patients do not respond to this therapy. An 8-month-old boy was admitted to a local hospital with the presumptive diagnosis of KD. He received IVIG twice and four series of methylprednisolone pulse therapy from the third to the tenth day of illness. Despite these treatments, his fever persisted with the development of moderate dilatations of the coronary arteries. A diagnosis of refractory KD was made, and infliximab with oral prednisolone was administered without success. Defervescence was finally achieved by cyclosporine A, an inhibitor of the signaling pathway of the calcineurin/nuclear factor of activated T cells (NFAT). Whole-genome sequencing of his deoxyribonucleic acid samples disclosed two single nucleotide variants (SNVs) in disease-susceptibility genes in Japanese KD patients, ORAI1 (rs3741596) and BLK (rs2254546). In summary, the refractory nature of the present case could be explained by the presence of combined SNVs in susceptibility genes associated with upregulation of the calcineurin/NFAT signaling pathway. It may provide insights for stratifying KD patients based on the SNVs in their susceptibility genes.
ISSN:2227-9067
2227-9067
DOI:10.3390/children8060433