X-linked agammaglobulinemia (XLA), caused by mutations in btk gene, is characterized by low or absent B cells and reduced levels of immunoglobulins. Immunoglobulin replacement therapy (IgRT) is its primary treatment that allows to reach adequate levels of IgG serum and reduce rates of invasive infection, improving life expectancy. However, patients continue to experience significant infectious and noninfectious complications.
Retrospective analysis of clinical evolution in 13 XLA patients (pt). The median age at diagnosis was 2.05 years with a median follow-up of 10.8 years; 3 pt discontinued follow-up controls. All patients are receiving IgRT: 6 pt intravenous immunoglobulin (IVIG), 3 pt conventional subcutaneous immunoglobulin, and 1 pt receives facilitated subcutaneous immunoglobulin. All patients were able to reach adequate levels of IgG and reduce severe and invasive infections; however, they continue suffering from respiratory tract infections needing oral antibiotics. 1 pt had evidence of bronchiectasis and was hospitalized because of infection (acute respiratory disease due to SARS-CoV-2).
Despite receiving adequate treatment, patients have developed noninfectious complications. 6/10 pt present allergic rhinitis, needing specific treatment to avoid secondary infections. 1 pt presented in his evolution recurrent abdominal pain with nausea and weight loss. Colonoscopy showed moderately active chronic gastritis caused by Helicobacter pylori, chronic duodenitis (Marsh 1), and chronic colitis with intense activity. He developed inflammatory bowel disease and low IgG serum levels despite having adequate treatment. He started with esomeprazole and metronidazole treatment for Helicobacter pylori and began gluten-free diet and mesalazine 3 g/day and high doses of IVIG (1g/k every 21 days), achieving very good recovery.
XLA patients experience complications despite optimal therapy; therefore, they require close monitoring with particular attention for gastrointestinal manifestations. Current therapies for XLA patients reduce early mortality, but patients continue to experience complications that impact organ function.
