Parvovirus B19-induced anemia as the presenting manifestation of X-linked hyper-IgM syndrome.

Parvovirus B19-induced anemia as the presenting manifestation of X-linked hyper-IgM syndrome.
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细小病毒 B19 诱导的贫血是 X 连锁高 IgM 综合征的表现。

DOI:
10.1086/515633
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发表时间:
1998
期刊:
The Journal of infectious diseases
影响因子:
--
通讯作者:
Ochs,HD
Ochs,HD
中科院分区:
--
文献类型:
--
作者:
Seyama,K;Kobayashi,R;Hasle,H;Apter,AJ;Rutledge,JC;Rosen,D;Ochs,HD

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细小病毒B19(B19)可导致慢性贫血,这是由于免疫功能低下的宿主持续感染而无法产生清除B19所需的中和抗体。3例X连锁高IgM综合征(XHIM)患者在8岁、14岁和17岁时均无症状,直到他们分别发生B19诱导的慢性贫血,发现CD40 L基因突变,包括错义突变(T254 M),导致新起始密码子和胞内结构域丢失的无义突变(R11 X),剪接位点突变(nt309 +2t→a)。对T细胞依赖性抗原噬菌体φX174的抗体应答受损,但中和抗体滴度高于经典表型的XHIM患者。所有3例患者均对静脉注射免疫球蛋白(IVIG)治疗有反应。CD40L基因的某些突变导致轻度XHIM表型,在未接受IVIG治疗的患者中B19感染后可能变得明显,因此不能保护免受B19感染。
Parvovirus B19 (B19) can cause chronic anemia due to persistent infection in immunocompromised hosts who cannot produce neutralizing antibody necessary for clearing B19. Three patients with X-linked hyper-IgM syndrome (XHIM), who were all asymptomatic until they developed B19-induced chronic anemia at the ages of 8, 14, and 17 years, respectively, were found to have mutations of theCD40Lgene, including a missense mutation (T254M), a nonsense mutation resulting in a new initiation codon and loss of the intracellular domain (R11X), and a splice site mutation (nt 309+2t→a). Antibody responses to the T cell-dependent antigen, bacteriophage φX174, were impaired, but neutralizing antibody titers were higher than in XHIM patients with classic phenotype. All 3 patients responded to intravenous immune globulin (IVIG) treatment. Certain mutations of theCD40Lgene result in a mild XHIM phenotype that may become apparent following B19 infection in patients not on IVIG therapy and therefore not protected from B19 infection.
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