LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

[...]she received several courses of steroids, rituximab (with prophylactic immunoglobulin replacement), and mycophenolate mofetil. Because of further chest symptoms, despite recommencing immunoglobulin replacement, a chest computed tomographic scan was performed that showed extensive lung infiltration. [...]hypogammaglobulinemia was not seen at presentation but occurred as a later event, and it may have been secondary to rituximab therapy, as has previously been described.4 Thus, our results show that deficiency caused by mutations in the LRBA gene may initially present as an autoimmune syndrome without common variable immunodeficiency. [...]a possibility of LRBA gene mutations should be considered for a broad spectrum of patients with primary immunodeficiencies and autoimmunity.