X-linked agammaglobulinemia with bronchiectasis and infection： a case report

doi:10.16150/j.1671-2870.2025.02.016

Abstract

Abstract:

X-linked agammaglobulinemia (XLA) is a rare disease characterized by severe hypogammaglobulinemia, antibody deficiency, and recurrent infections. This study reports a case of X-linked agammaglobulinemia combined with bronchiectasis and infection. The patient was a 45-year-old male with a disease course of more than 40 years, mainly presenting with recurrent infections such as pneumonia, sinusitis, and otitis media. After the patient was admitted due to bronchiectasis with infection this time, laboratory tests showed that the levels of IgM, IgA, and IgG were 0.24 g/L, 0.90 g/L, and 4.33 g/L, respectively, all significantly decreased, and the peripheral blood CD19⁺B lymphocyte count was 0.1%. Genetic testing results showed that the patient had a c.1095C>A (p.Asn365Lys) mutation in the Bruton's tyrosine kinase (Btk) gene. This case suggests that male patients with a history of recurrent infections and imaging evidence of bronchiectasis should further understand their family history, improve humoral and cellular immune testing, and perform genetic testing in a timely manner, which is beneficial for the early diagnosis and treatment of XLA.

Key words: X-linked agammaglobulinemia, Genetic diseases, Bbronchiectasis

CLC Number:

R593.31

LIN Jiayuan, CHENG Qijian, CHEN Ling. X-linked agammaglobulinemia with bronchiectasis and infection： a case report[J]. Journal of Diagnostics Concepts & Practice, 2025, 24(02): 233-237.

Figures/Tables 3

Figure 1

Figure 2

Table 1

References 17

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病例(参考文献)	年龄 (岁)	发病年龄 (岁)	诊断年龄 (岁)	性别	其他临床表现	IgM (g/L)	IgA (g/L)	IgG (g/L)	CD19⁺B细胞 (%)	基因突变位点
1^[2]	13	6	10	男	败血症、丹毒、鼻窦炎	<0.01	<0.01	0.06	<0.1	c.1770delG
2^[2]	15	0.8	11	男	复发性中耳炎、乳突炎、败血症、脑膜炎	0.06	0.02	1.7	<0.1	c.1742delG
3^[3]	19	<4	4	男	反复细菌感染，新型冠状病毒肺炎	<0.05	<0.05	7.44	0	/
4^[4]	27 (死亡)	16	27	男	反复的窦肺感染、髋关节炎、皮肤脓肿、阑尾炎	0.23	0.16	2.48	0.1	/
5^[4]	25	5.3	8	男	反复的窦肺感染、败血症、皮肤脓肿	0.27	<0.06	1.17	1.1	c.1132T>C
6^[4]	23	1.2	3	男	反复的窦肺感染、败血症	0.27	<0.06	1.06	0.1	c.1567-2A>G
7^[4]	22	3	6	男	反复的窦肺感染、败血症，结肠炎	0.27	<0.06	1.46	0.3	/
8^[4]	15	3	5	男	反复的窦肺感染、败血症	<0.18	<0.23	<1.5	0.2	c.910T>G
9^[4]	19	2.1	8	男	反复的窦肺感染、败血症	0.19	<0.23	2.01	0.8	c.504 G>T
10^[4]	25	0.7	7	男	反复的窦肺感染、脓胸	<0.17	<0.24	<1.36	0	c.392-2A>G
11^[4]	8	1.2	4	男	反复的窦肺感染、败血症、骨髓炎、坏疽性脓疱	<0.27	<0.06	1.13	0.2	c.1751-1G>A Del
12^[4]	28	4	20	男	细菌性心包炎、化脓性髋关节炎、败血症	0.22	<0.23	3.46	0.5	c.776+2 T>c
13^[4]	3	0.5	1	男	反复的窦肺感染、败血症	0.14	<0.23	2.71	0	Del c.1957G
14^[4]	6	0.4	16	男	反复的窦肺感染、败血症、坏疽性脓疱、细菌性肠炎和蜂窝组织炎伴脓肿	0.05	<0.46	2.02	1	c.232 C>T
15^[4]	28	3.1	5	男	反复的窦肺感染、败血症、脓胸	0.17	<0.06	0.22	0	c.1385 G>A
16(本例)	45	2	45	男	反复的窦肺感染、中耳炎、脑炎、肺脓肿	0.24	0.9	4.33	0.1	c.1095C>A