Mutations in LPS-responsive and beige-like anchor (LRBA) gene were recently described in
patients with combined immunodeficiency, enteropathy and autoimmune cytopenia. Here,
we extend the clinical and immunological phenotypic spectrum of LRBA associated
disorders by reporting on three patients from two unrelated families who presented with
splenomegaly and lymphadenopathy, cytopenia, elevated double negative T cells and
raised serum Fas ligand levels resembling autoimmune lymphoproliferative syndrome …