Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.
Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.
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一名患有特定抗体缺乏、需要每月注射 IVIG 的泰国患者的复合杂合 PGM3 突变。
DOI：
10.1007/s10875-019-00693-6
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发表时间：
2020
影响因子：
9.1
通讯作者：
Shotelersuk,Vorasuk
中科院分区：
文献类型：
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作者：
Ittiwut,Chupong;Manuyakorn,Wiparat;Tongkobpetch,Siraprapa;Benjaponpitak,Suwat;Fisher,MeganR;Milner,JoshuaD;Lyons,JonathanJ;Suphapeetiporn,Kanya;Shotelersuk,Vorasuk
编者按：磷酸葡萄糖变位酶3(PGM3)是一种将N-乙酰氨基葡萄糖-6-磷酸转化为N-乙酰氨基葡萄糖-1-磷酸的酶，N-乙酰氨基葡萄糖-1-磷酸是糖基化途径的关键糖核苷酸。已有16个免疫缺陷家系的41名患者出现PGM3缺陷的报道[1-8]。在17例高IgE综合征(HIEs)患者中首次报道了PGM3基因突变[1，2]。随后，携带PGM3突变的患者被发现有不同程度的免疫异常，包括TB-重度联合免疫缺陷[4-6]，T细胞功能低下并伴有高免疫球蛋白[7，8]，以及正常的IgE并伴有轻度免疫缺陷[3]。在此，我们报告了一例携带新的PGM3突变的泰国患者的临床过程和详细的实验室研究。
To the Editor: Phosphoglucomutase 3 (PGM3) is an enzyme converting N-acetyl-glucosamine-6-phosphate to N-acetylglucosamine-1-phosphate, a sugar nucleotide critical for glycosylation pathways. PGM3 defects have been reported in 41 patients of 16 families with immunodeficiency [1–8]. Mutations in PGM3 were first reported in 17 patients with hyper-IgE syndrome (HIES)[1, 2]. Subsequently, patients with PGM3 mutations were found to have varying degrees of immunological abnormalities including TB-severe combined immunodeficiency [4–6], diminished T cell function with high immunoglobulins including IgE [7, 8], and normal IgE with mild immunodeficiency [3]. Herein, we report the clinical course and detailed laboratory investigations of a Thai patient carrying novel mutations in PGM3.