医学
支气管扩张
低丙种球蛋白血症
原发性免疫缺陷
免疫缺陷
X连锁无丙种球蛋白血症
免疫学
体格检查
罕见病
儿科
病理
内科学
抗体
疾病
受体
免疫系统
酪氨酸激酶
肺
布鲁顿酪氨酸激酶
作者
Prithivi Raaj Prakash,Gaurav Gupta,Mukul Aggarwal,Upendra Baitha
出处
期刊:Case Reports
[BMJ]
日期:2023-03-01
卷期号:16 (3): e253878-e253878
标识
DOI:10.1136/bcr-2022-253878
摘要
We report the case of a woman in her early 20s with a history of recurrent infection, atopic dermatitis, filariasis and bilateral purulent ear discharge since childhood with tonsillar enlargement on examination. She was started on supportive care and evaluated for primary immunodeficiency disease. Blood investigations revealed increased IgM levels with reduced IgG, IgA and IgE levels. Radiological imaging of the chest revealed bilateral bronchiectasis. Otoscopic examination showed features suggestive of chronic suppurative otitis media. Next-generation sequencing identified homozygous single base pair deletion in exon 2 of the activation-induced cytidine deaminase gene. Thus, a diagnosis of hyper-IgM syndrome type 2 was confirmed. The patient was started on monthly intravenous immunoglobulin replacement therapy and is currently symptomatically better, and she remains under regular follow-up.
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