主要组织相容性复合物Ⅱ类分子缺陷病一例伴文献复习

A major histocompatibility complex class Ⅱ deficiency case report and literature review

目的 总结主要组织相容性复合物（MHC）Ⅱ类分子缺陷病1例患儿的临床特点及实验室结果。方法 分析2013年12月起在北京协和医院儿科诊治的1例MHC-Ⅱ类分子缺陷病患儿的临床资料、实验室检查及基因检测结果。以＂主要组织相容性复合物Ⅱ类分子缺陷病＂＂裸淋巴细胞综合征＂为关键词，在中国知网和万方数据库（建库至2015年10月）中检索，并以＂major histocompatibility complex class Ⅱ deficiency＂或＂bare lymphocyte syndrome＂为检索词，在PubMed数据库（建库至2015年10月）中检索，结合文献复习总结该病例特点、诊断标准、治疗及预后。结果 患儿男，8月龄。4月龄起病，临床表现为反复发热，对多种病原易感，合并免疫性溶血性贫血、重度营养不良，1岁8月龄经流式细胞术及基因检测，最终诊断为MHC-Ⅱ类分子缺陷病。在中国知网和万方数据库中未查到相关报道，在PubMed数据库中检索到近10年的报道共20篇178例，加本例报道共179例病例。综合分析显示，本病临床表现为极易被各种病原感染[呼吸道感染82%（146/178），胃肠道感染76%（135/178）]，实验室检查可见低丙种球蛋白血症，CD4＋T细胞减低（93%，107/115）等，诊断需依据流式细胞术及基因检测。结论 对于起病年龄小，临床表现为反复机会性感染，需考虑免疫缺陷病。尤其是长期的腹泻、发育不良及隐孢子虫所致的肠和肝的感染及肺孢子虫感染等对MHC-Ⅱ类分子缺陷病有提示意义。

Objective To summarize and report the clinical characteristics and laboratmy results of a case and those reported in literature with MHC class Ⅱ deficiency. Method The clinical features, laboratory results and gene mutation analysis of an infant with MHC class Ⅱ deficiency, who was diagnosed and treated in Peking Union Medical College Hospital since December 2013, were retrospectively analyzed. ＂Major histoeompatibility complex class Ⅱ deficiency＂ or ＂ bare lymphocyte syndrome＂ were used as keywords in order to retrieve reports from CNKI （from its establishment to October 2015） and Wanfang Database （from its establishment to October 2015 ）, PubMed Database （from its establishment to October 2015） was searched. The characteristics, diagnosis, treatment and prognosis were summarized by reviewing related articles. Result The patient was a 8-month-old boy. Since the fourth month of life, he started to have repeated fever, susceptible to a variety of pathogens, immune hemolytic anemia, severe malnutrition, and finally diagnosed as MHC class Ⅱ deficiency disease when he was 20-month-old. No related reports were retrieved from CNKI and Wanfang database, there were 20 articles and 179 patients were reported worldwide in the past 10 years. Patients exhibit an extreme vulnerability to infections （resptratory infection （ 82% , 146/178） ,inpection of gastrointestinal （76%, 135/178））. The common laboratmy examinations showed hypogammaglobulinemia, CD4 ＋ lymphopenia（93%, 107/115） etc. Diagnosis relies on the flow-eytometric analysis and genetic analysis. Conclusion It is considered necessary for patients with young onset age, manifestation of clinically opportunistic infection as immune deficient disease, including the MHC class Ⅱ deficiency disease, especially long-term diarrhea, poor development and cryptosporidium infection. This disease could coexist with autoimmune disorders.