| Objective: To analyze the clinical manifestations and btk gene mutation of 93 patients diagnosed as agammaglobulinemia,in order to provide detailed clinical and immunological screening data,which are believed to be beneficial for improving recognition of XLA initiating molecular diagnosis and timely treatment.Methods: Data from children with clinically diagnosed X-linked agammaglobulinemia hospitalized in the Children's Hospital of Chongqing Medical University from 1988 to 2018 were collected and retrospectively studied.Result: Ninty-three patients were from 90 different Chinese Han families.They came from 17 different provinces and cities of China.Among those,29 patients(31.1%)were from Sichuan province,23 patients(24.7%)from Chongqing,66 cases(70.6%)from the western part of China,respectively.The average age of 93 patients when they were diagnosed was8.0 0± 4.01 years old.In total 75 patients were able to obtain the onset age,the average of these patients' onset age was 1.56 ± 1.25 year.There were 32cases(34.4%)showed a positive family history of recurrent infection and early death in the childhood.Peripheral blood CD19+ B lymphocytes were detected in 85 patients.The frequency of 83 patient' CD19+B Lymphocytes in total perifpheral lymphocyte was less than 2%,of which 51 patients' B cell frequency was 0.But one patient(p93)had relatively higher B cell frequency(6%)in the peripheral blood.Serum IgG levels were detected in92 patients,67(72%)patients with IgG < 2 g/L and 25 patients with IgG >2 g/L(13 patients had infusion of gamma globulin before the test,but the time of infusion was unknown).The IgA ranged from 0.01 to 0.793 g/L,and the IgM ranged from 0.01 to 0.845 g/L.In 93 patients,the prevalence of lower respiratory tract infection(bronchitis/pneumonia)was 94.6%,31.1% for otitis media,29.0% for arthritis,24.7% for skin and soft tissue infection,and 19.1% in digestive tract infection.Among the serious infections,there were 15 cases of central nervous system infection,18 cases of sepsis,1 case of tuberculous pericarditis,and 2 cases of osteomyelitis.The study also included the first case of XLA combined with anaplastic large cell lymphoma in China.Sixty-five(69.8%)of the BTK genes were detected,of which 58(89.2%)were found to have BTK mutations,including 55 different BTK mutations.The mutations in the BTK gene including missense,frameshift,nonsense,deletion mutations,and cleavage site mutations were detected,while insertion were not found.Missense mutations are the most common in these mutations.BTKmutations were detected throughout the btk domain.The mean onset age(1.46±1.17 years old)of children with missense mutations was later than other types of mutations(1.11±1.09 years old),and the mean age of diagnosis of missense mutations(8.63±3.89 years old)was later than other types of mutations.(7.14±3.52 years old)Conclusion: The most common clinical manifestation of 93 patients with X-linked agammaglobulinemia is respiratory infection.The proportion of patients with lower respiratory tract infection is 94.6%,followed by otitis media.The mean onset age and age of diagnosis of patients with missense mutations are later than other types of mutations.In China,the onset age of XLA patients is similar to that in foreign countries,but the diagnosis age is obviously late,and there are still a large number of children with XLA who are still not diagnosed,that prompt pediatrician's understanding of the disease needs to be improved. |
PDF Full Text Request