Clinical Manifestations And Immunological Analysis Of 5 Patients With STAT1 Mutation And 20 Patients With Kawasaki Disease

PARTⅠCLINICAL MANIFESTATIONS AND IMMUNOLOGICAL ANALYSIS OF 5 PATIENTS WITH STAT1 MUTATIONObjective:To analyze the clinical manifestations,immunological features and p-STAT1 and STAT1 protein expression in five patients with STAT1 gene mutations.Methods:Five patients and their parents were enrolled in this study.The clinical manifestations of five patients were analyzed.The relative and absolute number of lymphocytes and proliferation of T lymphocyte were detected by flow cytometry.TCR Vβ,TRECs and STAT1 gene mutations were detected by PCR.The p-STAT1 and STAT1 protein expression were detected by Western Blot.Results:Five patients were diagnosed with STAT1 gene mutation,three of them were STAT1 gain-of-function mutation and two of them were STAT1 loss-of-function mutation.P1,P2,P4 and P5 characterized with CMCD,and P5 has hypothyroidism.P3 characterized with MSMD.All patients exhibited low output function of thymus and skewed CDR3spectratypings of TCR vβ.And the numbers of CD4~~+T lymphocyte(CD4Naive and CD4 EM),B lymphocyte(memory B and plasmablasts B)and Th17 lymphocyte were decreased.The proliferation of T lymphocyte in P2and P4 were reduced and in P1,P3 and P5 were normal.The p-STAT1protein expression in P1,P4 and P5 were increased but in P2 and P3 were decreased.The p-STAT1 protein expression of P2 mother was also decreased but no clinical symptoms.Conclusion:Five patients were characterized by Th17 reduced and accompanied by different degree of impaired immune function.Three of them were diagnosed with STAT1 gain-of-function mutation and two of them were STAT1 loss-of-function mutation.The detection of STAT1 gene mutation and p-STAT1 protein expression are the key methods for diagnosis.PARTⅡ IMMUNOPHENOTYPING ANALYSIS AND ITS CLINICAL SIGNIFICANCE IN 20 PATIENTS WITH KAWASAKI DISEASEObjective: To analyze the quantitative alternation of lymphocyte subsets in acute period Kawasaki disease(KD)and its significance in clinical diagnosis and treatment.Methods: Clinical data of 20 patients with acute KD,who were treated in Children’s Hospital of Chongqing Medical University as the KD group and 20 healthy children were selected as the control group,were analyzed prospectively.The levels of lymphocyte subsets(CD3~+,CD4~+ and CD4~+ subsets,CD8~+ and CD8~+ subsets,TCR αβ~+DNT,TCR γδ~+,CD4/CD8,CD19~+ and CD19~+ subsets,CD16~+CD56)were compared between two groups.The relationship between clinical indicators and lymphocyte subsets was analyzed simultaneously.Results: Data showed that compared with the control group,the levels of CD8 Naive,TCR αβ~+DNT,CD4/CD8,CD19~+ and CD19~+ subsets were increased(P<0.05)in KD group,while the levels of CD4 EM(CD4~+CD45RA-effector memory T cells),CD4 Temra(CD4~+CD45RA~+ effector memory T cells),CD8~+T,CD8 CM(CD8~+CD45RA-central memory T cells),CD8 Temra(CD8~+CD45RA~+ effector memory T cells),CD16~+CD56 were decreased(P<0.05).The level of TCRγδ~+T cells was increased(P<0.05)and CD4 Temra cells had a downward trend in KD patients with coronaryartery lesions(CAL),as compared with patients without CAL;the levels of CD3~+T,CD8 CM,CD8 EM,CD8 Temra cells were decreased(P<0.05),while the Transitional B cells was increased(P<0.05)in KD patients with complication of respiration system or digestive system,as compared to those of n RS or n DS patients.Conclusion: The function of T and B cells in patients with acute KD is abnormally activated.The TCRγδ~+T cells and CD4 Temra are related to the KD with coronaryartery lesions,while the CD3~+ T,CD8 CM,CD8 EM,CD8 Temra and Transitional B cells are related to the KD with complication of respiration system or digestive system.