Familial Mediterranean Fever After Cord Blood Transplantation for Familial Hemophagocytic Lymphohistiocytosis

被引：0

作者：

Igarashi, Keita ^{[1
]}

Hori, Tsukasa ^{[1
]}

Yamamoto, Masaki ^{[1
]}

Hatakeyama, Naoki ^{[3
]}

Iesato, Kotoe ^{[1
]}

Takebayashi, Akira ^{[1
]}

Kizawa, Toshitaka ^{[2
]}

Miyamae, Takako ^{[4
]}

Kawamoto, Manabu ^{[4
]}

Kawasaki, Yukihiko ^{[1
]}

机构：

[1] Sapporo Med Univ, Dept Pediat, Sch Med, Sapporo, Hokkaido, Japan

[2] Sapporo Hokushin Hosp, Dept Pediat, Sapporo, Hokkaido, Japan

[3] Hidaka Municipal Monbetsu Natl Hlth Insurance Hos, Dept Pediat, Hidaka, Japan

[4] Tokyo Womens Med Univ Hosp, Inst Rheumatol, Dept Pediat Rheumatol, Tokyo, Japan

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2021年 / 43卷 / 08期

关键词：

familial Mediterranean fever; familial hemophagocytic lymphohistiocytosis; cord blood transplantation; colchicine; BONE-MARROW-TRANSPLANTATION; MEFV; PHENOTYPE; TRANSMISSION; MUTATION;

D O I：

暂无

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder accompanied by periodic fever and sterile serositis. We report a 5-year-old boy with FMF, who underwent second unrelated cord blood transplantation (CBT) for recurrent familial hemophagocytic lymphohistiocytosis. Periodic attacks of fever and abdominal pain started 6 months after CBT. He was diagnosed with FMF according to the Tel-Hashomer criteria and treated successfully with colchicine. Genetic testing showed heterozygous p.E148Q mutation in the MEFV gene from both donor and recipient cells. Several CBT-related factors including use of an immunosuppressant can potentially be involved in the pathogenesis of FMF in our patient.

引用

页码：E1136 / E1139

页数：4

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