Activated phosphoinositide 3-kinase δ syndrome presenting with gut-associated T-cell lymphoproliferative disease
Activated phosphoinositide 3-kinase δ syndrome presenting with gut-associated T-cell lymphoproliferative disease
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活化磷酸肌醇 3-激酶综合征 δ 表现为肠道相关 T 细胞淋巴增殖性疾病
DOI：
10.11406/rinketsu.58.20
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Ohga S.
中科院分区：
文献类型：
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作者：
Teranishi H;Ishimura M;Koga Y;Eguchi K;Sonoda M;Kobayashi T;Shiraishi S;Nakashima K;Ikegami K;Aman M;Yamamoto H;Takada H;Ohga S.
一个13岁的男孩因为持续的腹泻、腹痛和血便被收住到我院。该患者自幼儿期以来因呼吸道感染反复住院治疗。结肠镜检查和病理学研究诊断为肠道相关T细胞淋巴增生性疾病（T细胞LPD）。实验室数据显示T淋巴细胞减少症（492/µl）、血清IgG水平升高（1，984 mg/dl）和特定病原体血清抗体滴度低。联合免疫缺陷伴T-LPD诊断为活化型PI 3 K δ综合征（APDS）。遗传分析鉴定了PIK 3CD基因的杂合突变（c. 1573 G至A p.Glu525Lys）。虽然泼尼松龙和环孢素治疗控制了T细胞LPD，该患者等待异基因造血细胞移植，以实现他的APDS的完全治愈。
A 13-year-old boy was admitted to our hospital because of persistent diarrhea, abdominal pain, and bloody stools. The patient had experienced repeated hospitalizations for the treatment of respiratory infections since early childhood. Colonoscopic and pathological studies led to a diagnosis of gut-associated T-cell lymphoproliferative disease (T-cell LPD). Laboratory data showed T-lymphocytopenia (492/µl), increased serum IgG levels (1,984 mg/dl), and low serum antibody titers for specific pathogens. Combined immunodeficiency accompanied by T-LPD suggested the diagnosis of activated PI3Kδ syndrome (APDS). Genetic analyses identified a heterozygous mutation of the PIK3CD gene (c. 1573 G to A p. Glu525Lys). Although prednisolone and cyclosporine therapy has controlled the T-cell LPD, this patient awaits allogeneic hematopoietic cell transplantation to achieve a complete cure of his APDS.