Pulmonary manifestation of X-linked agammaglobulinemia

Primary immune deficiencies [PID] comprise a heterogeneous group of genetically determined disorders that affect development and/or function of innate or adaptive immunity. Pts with PID suffer from recurrent and/or severe infections that frequently involve the lung. PID is identified as the underlying cause of bronchiectasis. XLA is PID caused by Bruton9s tyrosine kinase gene mutation. XLA is characterized by virtual absence of all immunoglobulin isotypesand of circulating B lymphocytes. Materials and methods: The group under study comprises 33 boys meeting definitive criteria for diagnosis of XLA [with Btk sequence analysis]. The retrospective analysis of personal, laboratory and clinical data was carried out. Results: First symptoms of XLA occurred at mean age of 1.3 yrs (range 0.2 - 7 yrs). Clinical diagnosis was established at 3.9 yrs (range 0.11-12 yrs). All immunoglobulin classes were below 2 SD. All pts presented normal numberof CD3+, CD4+, CD8+ cells. Total number of B cells was decreased (range 0 - 391 cells/μL, mean 0.65). Replacement immunoglobulin therapy was induced at mean age 3.5 yrs (range 0.11 -12 yrs). The most common complications were the lower respiratory tract infections: 71% pts suffered from bronchitis, 51% pneumonia, 30% bronchiectasis(10 pts). Pts with bronchiectasisdeveloped first symptoms at mean age 1.8 yrs (0.6 - 4.7 yrs). Clinical diagnosis was established at 3.9 yrs (2.0 - 5.4 yrs), replacement immunoglobulin therapy was induced at 5.3 yrs (2.3 - 15.7 yrs). 3 pts presented lung cirrhosis. Conclusions: Searching for an underlying immune defect in pts with chronic lung disease is very important. Delayed or suboptimal replacement therapy may result in chronic pulmonary disease or bronchiectasis.