2014年 · 第52卷第12期

The human defense system may be regulated by hundreds of genes, and one or more of these genes may have classical genetic changes such as mutations, deletions, insertions or copy number variations, or epigenetic changes caused by environmental factors (which can be passed on to offspring), all of which may present immunodeficiency diseases. Previously, the so-called "primary immunodeficiency diseases (PID)" mainly referred to the functional defects of immune cells and immune molecules caused by classical genetic mutations of genes involved in immune system function, and the clinical manifestations were susceptible to infection, malignant tumors and autoimmune diseases.

autoinflammatory diseases or disorders (AIDs) are a group of recurrent non-invasive inflammatory diseases characterized by recurrent fever, acute arthritis, and increased protein in the acute phase due to innate immunodeficiency. Since 1999 McDermott et al.^[1]After being proposed, this type of disease is largely underestimated due to insufficient awareness and lack of diagnostic conditions. With the progress of genetic diagnosis technology and the development of inflammation mechanism and signaling pathway, the understanding of autoinflammatory diseases has made great progress in recent years.

severe combined immunodeficiency (SCID) is the most severe type of primary immunodeficiency disease, and its causative genes are involved in the development and function of lymphocytes. Children often present with recurrent or persistent respiratory and digestive tract bacterial, viral and opportunistic infections, which can be accompanied by maternal T cell implantation, which often leads to graft versus host disease (GvHD), such as red skin macules, hemolytic anemia, etc. There are more than 20 pathogenic genes, and most of these gene mutations lead to the above typical SCID manifestations^[1]。 However, in recent years, more and more atypical cases have been reported, which are often missed and misdiagnosed due to the lack of adequate knowledge by clinicians, which ultimately leads to treatment delay. The clinical research progress of atypical SCID is reviewed below.

Bronchopulmonary dysplasia (bronchopulmonary dysplasia，BPD) is a common chronic lung disease in the neonatal period, and the level of lung development not only affectsBPDThe survival of the child also determines the lung function of the surviving child in adulthood. With the improvement of neonatal treatment, the survival rate of premature infants, especially very premature infants and very low birth weight infants, increased significantly, and the "classical type" associated with hyperoxia and barotraumaBPDInstead, "novel" diseases associated with obstruction of alveolar development and pulmonary vascular development have emerged.BPD。 However, at present, there areBPDThe basic and clinical prevention and treatment research has not changed accordingly in time, so in the existingBPDOn the basis of epidemiology, clinical manifestations, pathology and imaging studies,BPDRelevant research is summarized and thinking is put forward, in order to provideBPDFurther research and prevention provide new ideas.

A 2-year-old and 1-month-old male was admitted to the hospital because of "6 months after orthotopic liver transplantation, yellowing staining of skin and sclera aggravated for 10 days and fever for 1 day". The child underwent orthotopic liver transplantation 6 months ago due to biliary atresia and cholestatic cirrhosis. After discharge, the child was regularly reviewed in our hospital. Two months ago, he underwent percutaneous transhepatic biliary drainage (PTCD) due to biliary complications. The PTCD drainage tube was blocked 10 days before admission, and the child developed fever and body temperature of 38.4 ℃ 1 day before admission. He was transferred to our hospital for further treatment. Previous history of protein allergy. The child was delivered naturally at full term, the second birth was the second birth, and the weight at birth was 3.75 kg. He was vaccinated with hepatitis B vaccine and BCG vaccine at birth, but later he was not vaccinated due to abnormal liver function.

The 6th National Symposium on Pediatric Clinical Virology was held in Foshan, Guangdong Province from March 29 to 30, 2014. This conference was sponsored by the National Pediatric Clinical Virology Collaborative Group and the Pediatric Branch of Foshan Society of Integrated Traditional Chinese and Western Medicine, and co-organized by Guangzhou Women and Children's Medical Center. This conference received manuscripts from all provinces, municipalities and autonomous regions across the country, and 16 final speeches were made at the conference after review. More than 100 people, new and old members of the National Pediatric Clinical Virology Assistance Group and colleagues from Foshan City, Guangdong Province, gave special lectures and conference speeches respectively, and had lively discussions. The main contents of the meeting are now introduced as follows.