Autoimmune lymphoproliferative syndrome, type 1B

In most cases, the disease is revealed early in life, usually before 5 years of age. This syndrome associates lymphoproliferative manifestations, such as splenomegaly and polyadenopathy with a specific immunological disorder. The latter consists of serum hyper-gammaglobulinemia G (hyper IgG) sometimes associated with hyper IgA, accumulations of a particular T-cell population i.e., α/β T-cell receptor (TCR)(+) CD4(-) CD8(-). Autoimmune manifestations are observed in most cases. Lymphoproliferative manifestations resolve with age, whereas immunological disorders frequently persist.

Therapeutic options

  • In patients with massive lymphoproliferation, chemotherapy with prednisone, cyclophosphamide and vincristine has been unsuccessful. Allogenic bone-marrow transplantation is the only cure for complete Fas deficiency. In case of hypersplenism, splenectomy is often performed. Severe autoimmune manifestation can be treated with steroids and cyclophosphamide.
  • Lymphoproliferative disorders, eMedicine