Objective To investigate the clinical features in children with X-linked recessive granulomatous disease, and to summarize X-linked CYBB gene mutations. Methods The first presenting signs, infection sites,pathogen and inflammatory complications, and the X-linked CYBB gene mutations had been recorded and summarized.Results From July 2007 to July 2009, X linked chronic granulomatous disease was genetically diagnosed in 22 Chinese male children. The mean age at the first infection onset was 0.7 year old and the mean age of diagnosis was 2.7 years old. Six cases had positive family history. The first symptoms were fever ( 18 cases ), cough ( 9 cases ), skin/mucous/lymphonode inflammation ( 6 cases ), diarrhea ( 4 cases ). The first diagnoses were pneumonia ( 14 cases ),sepsis ( 4 cases, 1 case typhoid fever), and impetigo ( 3 cases). To summarize all infections, 22 cases had pneumonia, 12 cases had sepsis, 8 cases had rash, 6 cases had exuberant skin scar, 5 cases had peranal abscess, 3 cases had inpetigo, 2 cases had pyogenic lymphadenitis, 1 case had skin abscess, and 4 cases had pyogenic meningitis. Two cases had aspergillosis from lung tissue culture, and one cases had typhoid bacillia from bone marrow.Twenty-two cases had ipsilateral axillary calcification, one case had lymphadenopathy, and 4 cases had lymphonode calcification in other location. One case had suspected BCG-osis. Four cases had highly suspected lung TB, and one case had been diagnosed with bone TB. CYBB mutation analysis showed that 2 cases were insert/del, 8 cases were missense, 8 cases were nonsense, 6 cases were splice site, and 8 cases were de novo. Conclusions When children with normal humeral and cellular immunity had recurrent pneumonia, especially complicated with sepsis, skin exuberant scar, peranal abscess, chronic granulomatous disease, should be suspected X-linked chronic granulomatous disease. Special attention should be paid to aspergillosis pneumonia. Ipsilateral axillary calcification is the cue of diagnosis. CYBB gene mutations are complex and heterogeneity. Gene mutation analysis is the important tool for genetic counseling and prenatal diagnosis.%目的了解X连锁慢性肉芽肿病患儿的临床特点及基因突变类型.方法 观察X连锁慢性肉芽肿病(X-CGD)患儿起病方式、感染部位、病原谱和炎症并发症等临床特点,总结基因突变类型.结果 22例男童被诊断为X连锁慢性肉芽肿病,平均起病年龄为0.7岁,平均诊断年龄为2.7岁,6例有家族史.首发症状发热18例,咳嗽9例,皮肤/黏膜/淋巴结炎症6例,腹泻4例.首次诊断前3位依次为肺炎14例,败血症4例,脓疱疹及腹泻病各3例.感染前3位依次为至少1次肺部感染22例,败血症12例,肛周脓肿6例.肺组织及血培养曲霉菌2例、伤寒杆菌1例.BCG接种同侧腋下淋巴结钙化12例、肿大1例,远距离淋巴结钙化4例,播散性卡介苗病(BCG-osis)1例,高度怀疑肺结核4例,骨结核1例.CYBB基因突变分析示缺失/插入2例,拼接区突变6例,无义突变6例,错义突变8例.新发现的突变为8例.结论 对于反复肺炎的患儿,尤其伴有败血症、皮肤过度疤痕/肛周脓肿者.若常规体液和细胞免疫功能正常,应考虑慢性肉芽肿病可能,曲霉菌肺炎需尤其关注.重症BCG淋巴结炎具有提示诊断的意义.CYBB基因突变分布广泛,异质性明显.基因突变分析是开展遗传咨询和产前诊断的重要工具.
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