Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study

Abstract

BackgroundLPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by mutation in LRBA gene. The patients have a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, autoimmunity, and enteropathy. MethodsA total of 17 LRBA-deficient patients were enrolled in this longitudinal study. For all patients, demographic information, clinical records, laboratory, and molecular data were collected. ResultHypogammaglobulinemia was reported in 14 (82.4), CD4(+) T-cell deficiency in five (29.4), NK cell deficiency in three (21.4), and CD19(+) B-cell deficiency in 11 (64.7) patients. All patients had history of infectious complications; pneumonia was the most common (76.5) occurring infection. A history of lymphoproliferative disorders was observed in 14 (82.3), enteropathy in 13 (76.5), allergic symptoms in six (35.5), neurologic problems in four (23.5), and autoimmunity (mostly autoimmune cytopenia) in 13 (76.5) patients. Sirolimus treatment improved enteropathy of patients with remarkable success. The 20-year overall survival rate declined to 70.6. ConclusionLRBA deficiency has a very broad and variable phenotype and should be considered, especially in children with early-onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections.