Introduction-Objective: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease predominantly with antibody deficiency and characterized by recurrent pyogenic infections, absence of B cells and agammaglobulinemia. In this study, it is aimed to review the demographic data of our XLA patients and examine the frequency of severe bacterial and mild infections and benefits of immunoglobulin replacement therapies to reduce the rate of infections. In addition, correlations between genotypic results and clinical and laboratory findings were searched. PATIENTS AND METHODS: In this study, 20 patients who were followed-up between 1995-2019 and diagnosed with XLA by flow cytometric and genetic tests were included. Demographic data, symptoms at admission and follow-up, laboratory data and radiologic imaging findings, previous infections, immunoglobulin replacement treatments, and genetic analysis results of the patients were recorded. RESULTS: All patients in the study were male and the mean age of onset of symptoms was 60 months. The mean age at diagnosis was 72 months. A total of 19 different mutations were identified in the Bruton-tyrosine kinase gene, six of them were novel. Our eldest patient was 34 years old and the longest follow-up period was 24 years. Respiratory tract infections were the most common in the patients, only 35% of the causative agents were found in sputum cultures and H. influenzae type b (57.8%) was isolated most frequently. Both intravenous and subcutaneous immunoglobulin replacement therapies significantly reduced the number of severe bacterial infections and other mild infections. CONCLUSION: XLA is a rare pediatric primary immunodeficiency disease and affected individuals require lifelong immunoglobulin replacement therapy. Immunoglobulin replacement prevents life-threatening infections and dramatically increases survival rates. The patients with regular treatment and follow-up, reach adulthood and has a high quality of life. AJCEI
Introduction-Objective: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease predominantly with antibody deficiency and characterized by recurrent pyogenic infections, absence of B cells and agammaglobulinemia. In this study, it is aimed to review the demographic data of our XLA patients and examine the frequency of severe bacterial and mild infections and benefits of immunoglobulin replacement therapies to reduce the rate of infections. In addition, correlations between genotypic results and clinical and laboratory findings were searched. PATIENTS AND METHODS: In this study, 20 patients who were followed-up between 1995-2019 and diagnosed with XLA by flow cytometric and genetic tests were included. Demographic data, symptoms at admission and follow-up, laboratory data and radiologic imaging findings, previous infections, immunoglobulin replacement treatments, and genetic analysis results of the patients were recorded. RESULTS: All patients in the study were male and the mean age of onset of symptoms was 60 months. The mean age at diagnosis was 72 months. A total of 19 different mutations were identified in the Bruton-tyrosine kinase gene, six of them were novel. Our eldest patient was 34 years old and the longest follow-up period was 24 years. Respiratory tract infections were the most common in the patients, only 35% of the causative agents were found in sputum cultures and H. influenzae type b (57.8%) was isolated most frequently. Both intravenous and subcutaneous immunoglobulin replacement therapies significantly reduced the number of severe bacterial infections and other mild infections. CONCLUSION: XLA is a rare pediatric primary immunodeficiency disease and affected individuals require lifelong immunoglobulin replacement therapy. Immunoglobulin replacement prevents life-threatening infections and dramatically increases survival rates. The patients with regular treatment and follow-up, reach adulthood and has a high quality of life. AJCEI
Authors: D Doğruel; M Serbes; A Ş Şaşihüseyinoğlu; M Yılmaz; D U Altıntaş; A Bişgin Journal: Allergol Immunopathol (Madr) Date: 2018-07-30 Impact factor: 1.667
Authors: M Reisi; G Azizi; F Kiaee; F Masiha; R Shirzadi; T Momen; H Rafiemanesh; N Tavakolinia; M Modaresi; A Aghamohammadi Journal: Eur Ann Allergy Clin Immunol Date: 2017-05
Authors: Zeinab A El-Sayed; Irina Abramova; Juan Carlos Aldave; Waleed Al-Herz; Liliana Bezrodnik; Rachida Boukari; Ahmed Aziz Bousfiha; Caterina Cancrini; Antonio Condino-Neto; Ghassan Dbaibo; Beata Derfalvi; Figen Dogu; J David M Edgar; Brian Eley; Rasha Hasan El-Owaidy; Sara Elva Espinosa-Padilla; Nermeen Galal; Filomeen Haerynck; Rima Hanna-Wakim; Elham Hossny; Aydan Ikinciogullari; Ebtihal Kamal; Hirokazu Kanegane; Nadia Kechout; Yu Lung Lau; Tomohiro Morio; Viviana Moschese; Joao Farela Neves; Monia Ouederni; Roberto Paganelli; Kenneth Paris; Claudio Pignata; Alessandro Plebani; Farah Naz Qamar; Sonia Qureshi; Nita Radhakrishnan; Nima Rezaei; Nelson Rosario; John Routes; Berta Sanchez; Anna Sediva; Mikko Rj Seppanen; Edith Gonzalez Serrano; Anna Shcherbina; Surjit Singh; Sangeetha Siniah; Guiseppe Spadaro; Mimi Tang; Ana Maria Vinet; Alla Volokha; Kathleen E Sullivan Journal: World Allergy Organ J Date: 2019-03-22 Impact factor: 4.084