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表现为多病毒肺炎的X连锁无丙种球蛋白血症

X-linked Agammaglobulinemia Presenting with Multiviral Pneumonia.

作者信息

Arroyo-Martinez Yadis M, Saindon Michael, Raina Jilmil S

机构信息

Internal Medicine, University of South Florida, Tampa, USA.

Internal Medicine, Smolensk State Medical University, Smolensk, RUS.

出版信息

Cureus. 2020 Apr 29;12(4):e7884. doi: 10.7759/cureus.7884.

Abstract

X-linked agammaglobulinemia (XLA) is a primary humoral immunodeficiency characterized by severe hypogammaglobulinemia and increased risk of infection. The genetic condition results from a mutation in the Bruton tyrosine kinase (BTK) gene located on the X chromosome leading to a near absence of B cells. Patients affected by XLA are most commonly predisposed to frequent and severe bacterial infections. However, here we report the case of a 20-year-old male with XLA who presented with viral pneumonia with multiple pathogens. This coexistence has been rarely reported. The patient received intravenous immunoglobulin therapy with noted significant improvement in the two weeks of follow-up. His clinical history supports the hypothesis of increased susceptibility to viral pathogens in the absence of immunoglobulin therapy. The humoral defect is the cornerstone of this phenomenon. This case presents the importance of multiviral causes for patients with recurrent episodes of pneumonia in an immunocompromised state.

摘要

X连锁无丙种球蛋白血症(XLA)是一种原发性体液免疫缺陷病,其特征为严重低丙种球蛋白血症和感染风险增加。这种遗传性疾病是由位于X染色体上的布鲁顿酪氨酸激酶(BTK)基因突变引起的,导致B细胞几乎缺失。受XLA影响的患者最常易患频繁且严重的细菌感染。然而,我们在此报告一例20岁患有XLA的男性患者,他出现了由多种病原体引起的病毒性肺炎。这种共存情况鲜有报道。该患者接受了静脉注射免疫球蛋白治疗,在随访的两周内有显著改善。他的临床病史支持了在缺乏免疫球蛋白治疗的情况下对病毒病原体易感性增加的假说。体液缺陷是这一现象背后的关键因素。该病例凸显了在免疫功能低下状态下,多种病毒病因对于反复发生肺炎的患者的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a8c/7255535/7de5cbf6a098/cureus-0012-00000007884-i01.jpg

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