Autoimmune Lymphoproliferative Syndrome: Response to Mycophenolate Mofetil and Pyrimethamine/Sulfadoxine in a 5-Year-Old Child

Abstract

Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare inherited disorder of disrupted lymphocyte homeostasis characterized by chronic splenomegaly and lymphadenopathy of early onset, hypergammaglobulinemia (Ig G and Ig A), autoimmune phenomena, and expanded populations of TCR-a/b?, CD3?, CD4-, CD8-T cells (Fisher et al. Cell 81:935-946;1995) , called double negative T-cells [(DN) T cells].We discuss a case of ALPS which showed good response to immunosuppressant drug Mycophenolate-Mofetil in combination with Pyrimethamine/ Sulfadoxine.

Autoimmune Lymphoproliferative Syndrome: an Update and Review of the Literature

“…IVIG is generally given concomitantly with pulse dose methylprednisolone at doses of 1–2g/kg [1]. Other steroid sparing agents that have been trialed in ALPS include rituximab[18, 19], mycophenolate mofetil (MMF)[20], and mammalian target of rapamycin (mTor) inhibitors such as sirolimus[21, 22]. Pentostatin has also been used with success in some children with refractory cytopenias[23].…”

“…MMF has been used in various autoimmune disorders, including psoriasis, systemic lupus as well as autoimmune cytopenias[24]. With regards to ALPS, MMF has been used successfully as a steroid-sparing agent in more than 50 cases, and is most commonly used to treat autoimmune manifestations such as cytopenias [20, 25]. MMF is usually given concomitantly with high dose IV corticosteroids initially, and then continued while tapering oral prednisone, with an overlap of at least 2 weeks in order to allow MMF to achieve therapeutic levels.…”