Recurrent Infections, Cytopenias and Lung Disease
2019
Consider evaluating patients with early onset autoimmunity, lymphoproliferation, and recurrent infections for genetic mutations in the LRBA
Early recognition and treatment of interstitial lung disease is important, as pulmonary involvement significantly increases morbidity and mortality of patients with primary immunodeficiency
Patients with mutations in LRBA have shown improvement in autoimmune and lymphoproliferative complications after treatment with the CTLA-4 immunoglobulin fusion drug, abatacept
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