Clinical Analysis Of 23 Cases With X-Linked Agammaglobulinemia

Background:XLA (X-linked agammaglobulinemia) which also called Bruton Syndrome, first described in 1952, is a rare X-linked primary immunodeficiency disease which mainly affects the immune system to defense the infections. In this study, we analyze the clinical stuff of 23 cases with XLA through the features of clinic, immunology and genetics.Method:By extracting the stuff of the admitted 23 patients in our hospital between 2005 and 2014 who have been diagnosed as XLA and with definite XLA gene diagnosis and relevant information, including their general information, clinical features, immunological and genetic data would be retrospectively analyzed.Result:The average age of onset was 32.3 (6-109) months, and the average age of diagnosis was 86.3 (24-164) months. Of all the 23 patients, 16 were diagnosed as pneumonia,5 were diagnosed as arthritis and 5 were diagnosed as pulmonary closure, other diagnosis included bronchiectasis (3 cases) and nasosinusitis (3 cases), anemia (2 cases) and skin infection (2 cases), hypostatic pneumonia (1 case), tuberculous meningitis (1 case), and so on. In the classification of lymphocytes, the number of the B cells is absent or dramatically decreased. And the level of immunoglobulins including IgQ IgA and IgM in serum is extremely diminished.Conclusion:Early diagnosis and treatment are significant for the prognosis of the patients with XLA. Male patients with recurrent pneumonia, symptoms of joints, otitis media or other infectious diseases, the possibility of XLA should be taken into consideration, especially for those with family history. Immunological tests should be carried out as early as possible, followed by genetic diagnosis targeting candidate gene, BTK, for confirmed diagnosis.