Clinical Features Of Primary Immunodeficiency Disease And A Case Of Adult CVID Caused By Nt-?B1 Gene Mutation

Part ?:Clinical features of primary immunodeficiency diseaseObjective We analyze the clinical characteristics of Primary Immunodeficiency disease(PID)in order to improve the early recognition,diagnosis and treatment of this kind of diseases.Meanwhile improve the quality of life and the survival rate of the patients.Methods This study includes 24 patients diagnosed with primary immunodeficiency.They were hospitalized from April 2010 to January 2018 in Qilu Hospital of Shandong University.We collected their information including age,gender,clinical manifestations,laboratory examination,treatment and conducted retrospective analysis.Results There were 10 cases of CVID,6 cases of XLA,4 cases of SCID,2 cases of SIgAD,1 case of WAS syndrome and 1 case of HIgM syndrome.Their common characteristic are recurrent and severe infections.Pulmonary and digestive tract infections in the most,followed by cerebral infection,skin infection.Laboratory examination showed different degrees of immunodeficiency,decreased T or B lymphocytes levels.Intravenous immunoglobulin treatment is effective,most of the patients also accept antibiotic treatment.Conclusion PID is a group of diseases mainly occured in children.Adult patients are less severe than children.We can make early diagnosis according to the clinical manifestations,laboratory examination and gene analysis.Early treatment to the patients can improve the patient's quality of life.Part ?:A case of adult CVID caused by NF-?B1 gene mutationObjective Common variable immunodeficiency(CVID)is a member of PID.NF-?B1 gene is closely related to CVID and heterozygous mutation of NF-?B1 results in progressive deficiency of immunoglobulin B cell formation[1].We studied a family with CVID caused by NF-?B1 gene mutation to improve the understanding of the disease and explore the gene mutation exists in the family.Methods A patient with a 20-year history of diarrhea was recently hospitalized due to three months of interrupted fever.We highly suspect that he has primary immunodeficiency and collected blood samples from all family members to identify the gene mutation.Results The patient has severely decreased levels of serum IgG,IgA,and IgM.Unexpectedly,his son has moderately reduced IgG levels,while others'immunoglobulin is normal.The patient's lymphocyte phenotyping revealed a high ratio of CD3+,CD3+/CD8+ lymphocytes and low ratio of CD 19+,CD56+CD16+lymphocytes,which suggests a decreased proportion of B lymphocytes.Next-generation sequencing revealed heterozygous NF-?B1 frame shift mutations(c.2053delG:p.G685fs)in the patient and his son.Prediction of the tertiary structure illustrated that the coding protein is terminated early.The mutation resulted in loss of some helixes and formation of a new helix at the C-terminal.This is a novel mutation of NF-?B1 that has not previously been reported in PID,and which forms a new protein structureConclusion Prediction of the tertiary structure illustrated that the coding protein is terminated early.The mutation resulted in loss of some helixes and formation of a new helix at the C-terminal.This is a novel mutation of NF-?B1 that has not previously been reported in PID,and which forms a new protein structure.