18岁男性IgM缺乏与连接蛋白突变相关。

0 OTORHINOLARYNGOLOGY
Sandeep Sarkaria, Meghan Callahan, Zachary Hostoffer, John Venglarcik, Robert Hostoffer
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引用次数: 0

摘要

IgM缺乏症的特点是血清IgM水平明显低,而IgG和IgA水平正常。这些患者临床表现为复发性感染、自身免疫性疾病和恶性肿瘤。虽然未知,但提出的机制解释了由于IgG抗体反应受损导致的病理生理学问题。连接蛋白基因编码间隙连接蛋白,其突变可导致听力缺陷和免疫失调。我们提出一个独特的情况下,18岁的病人复发性鼻窦炎,诊断连接蛋白26突变和IgM缺乏。一例18岁男性,慢性鼻窦炎,马氏关节过度活动综合征,双侧人工耳蜗连接蛋白26缺乏引起的感音神经性听力损失。该患者的突变是位于13号染色体上编码连接蛋白26的GJB2缺失。患者反复感染,血清免疫球蛋白IgA正常(84 mg/dL;正常:70- 400mg /dL), IgG (922mg /dL;正常:700-1600毫克/分升),IgM降低(26毫克/分升;正常:40-230毫克/分升)。该患者对腮腺炎、麻疹、风疹和白喉等疫苗接种有反应,符合SIGMD诊断。缺乏对多糖抗原的抗体反应。白细胞计数在正常范围内。他的父母是连接蛋白26缺陷携带者,他的哥哥被诊断为SIGMD。Connexin-26具有多种免疫机制。尽管该基因的突变与与IgM相关的抗体形成没有直接联系,但在1例患者中出现这两种病理是有趣的,可能表明存在病理生理联系。我们描述了第一例连接蛋白突变与IgM缺乏在一个18岁的男性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
IgM Deficiency Associated With Connexin Mutation in an 18-Year-old Male.

IgM deficiency is characterized by remarkably low serum levels of IgM with normal IgG and IgA levels. These patients clinically present with recurrent infections, autoimmune disorders, and malignancies. While unknown, the proposed mechanisms explain the pathophysiology as an issue due to impaired IgG antibody response. The connexin genes encode for gap junctional proteins where mutations can cause hearing deficits and immune dysregulation. We present a unique case of an 18-year-old patient with recurrent sinusitis, diagnosed connexin-26 mutation and an IgM deficiency. An 18-year-old male with chronic sinusitis, Marfanoid joint hypermobility syndrome, and sensorineural hearing loss due to connexin-26 deficiency with bilateral cochlear implants. This patient's mutation is a GJB2 deletion located on chromosome 13 which encodes for the connexin-26 protein. The patient experienced recurrent infections, and serum immunoglobulins showed a normal IgA (84 mg/dL; normal: 70-400 mg/dL), IgG (922 mg/dL; normal: 700-1600 mg/dL) and reduced IgM (26 mg/dL; normal: 40-230 mg/dL) levels. The patient was responsive to Mumps, Measles, Rubella, and Diphtheria vaccinations among others, consistent with SIGMD diagnoses. Antibody responses to polysaccharide antigens were absent. The leukocyte counts were within normal limits. His parents are connexin-26 deficient carriers, and his older brother was diagnosed with SIGMD. Connexin-26 has been identified with multiple immunological mechanisms. Although mutations of this gene have no direct tie to antibody formation in relation to IgM, the presence of these 2 pathologies in 1 patient is intriguing and may suggest a pathophysiologic connection. We describe the first case of connexin mutation with an IgM deficiency in an 18-year-old male.

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