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

To summarize and report the clinical characteristics and laboratory results of a case and those reported in literature with MHC class Ⅱ deficiency.

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 histocompatibility 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.

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 gastroin testinal(76%, 135/178)). The common laboratory examinations showed hypogammaglobulinemia, CD4(+) lymphopenia(93%, 107/115) etc. Diagnosis relies on the flow-cytometric analysis and genetic analysis.

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.