Dianzani Autoimmune Lymphoproliferative Disease

Dianzani autoimmune lymphoproliferative disease (DALD), an ALPS-like syndrome, is characterized by:

1. Defective function of the Fas receptor

2. Autoimmune conditions, predominantly involving blood cells; ITP, AIHA, and autoimmune neutropenia

3. Polyclonal accumulation of lymphocytes in the spleen and lymph nodes.

However, it differs from ALPS in that it lacks expansion of DNT cells. DALD patients have a high level of osteopontin (OPN) due to increases in the haplotype frequencies of B and C types of haplotypes of OPN. These haplotypes are responsible for the increased levels of OPN. In vitro, observations show that high levels of OPN decrease activation-induced T-cell apoptosis. For this reason, high levels of OPN have been implicated in the apoptotic defect of DALD.

Was this article helpful?

0 0

Post a comment