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首页> 外文期刊>Clinical immunology: The official journal of the Clinical Immunology Society >Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis
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Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis

机译：DOCK8缺乏伴滤泡增生和淋​​巴结浆细胞增生的体液免疫反应异常

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摘要

Mutations in the DOCK8 gene define the most common form of autosomal-recessive Hyper-IgE-syndrome (AR-HIES/OMIM#243700). In a patient with extensive molluscum contagiosum lesions, a homozygous DOCK8 gene deletion was demonstrated.In-vivo 18-FDG uptake showed multiple non-enlarged lymph nodes without uptake in the spleen. Lymph node biopsies for subsequent immunohistochemistry showed clear differences with the mouse model of DOCK8 deficiency in which these mice show no GCs. Unexpectedly, the patient's lymph nodes demonstrated lymphocyte polyclonality, follicular hyperplasia and an unusual IgE+ plasma cell expansion. In contrast, the proliferative capacity of circulating B-cells was almost absent with little in-vitro Ig production or plasmablast formation. Also the T-cell proliferation indicated a partial defect. Hematopoietic stem cell transplantation (HSCT) was performed resulting in the disappearance of the molluscum contagiosum lesions. In sum, DOCK8 deficiency results in defective antibody responses and undirected plasma cell expansion in the lymph nodes, as part of a combined immunodeficiency cured by HSCT.
机译：DOCK8基因中的突变定义了常染色体隐性遗传超IgE综合征（AR-HIES / OMIM＃243700）的最常见形式。在患有广泛的软体动物感染的患者中，证实了纯合的DOCK8基因缺失。体内18-FDG摄取显示多个未肿大的淋巴结，但脾脏没有摄取。后续免疫组化的淋巴结活检显示与DOCK8缺乏症的小鼠模型明显不同，在这些模型中，这些小鼠未显示任何GC。出乎意料的是，患者的淋巴结表现出淋巴细胞多克隆性，滤泡增生和异常的IgE +浆细胞扩张。相比之下，几乎不存在循环B细胞的增殖能力，几乎没有体外Ig产生或成浆细胞形成。 T细胞增殖也表明部分缺陷。进行了造血干细胞移植（HSCT），导致了软体动物感染性皮损的消失。总而言之，DOCK8缺乏症会导致抗体应答缺陷和淋巴结内无定向浆细胞扩增，这是HSCT治愈的合并免疫缺陷的一部分。

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