[3] pDCs that undergo malignant transformation cause a rare hematologic disorder, blastic plasmacytoid dendritic cell neoplasm.
Transcription factor E2-2 has also been found to play a key role in influencing the lineage commitment of a common DC progenitor on its course to becoming a pDC.
[10] Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare type of myeloid cancer in which malignant pDCs infiltrate the skin, bone marrow, central nervous system, and other tissues.
Typically, the disease presents with skin lesions (e.g. nodules, tumors, papules, bruise-like patches, and/or ulcers) that most often occur on the head, face, and upper torso.
[4] This presentation may be accompanied by cPC infiltrations into other tissues to result in swollen lymph nodes, enlarged liver, enlarged spleen, symptoms of central nervous system dysfunction, and similar abnormalities in breasts, eyes, kidneys, lungs, gastrointestinal tract, bone, sinuses, ears, and/or testes.
[11] Blastic plasmacytoid dendritic cell neoplasm has a high rate of recurrence following initial treatments with various chemotherapy regimens.
These anti-host DNA antibodies are able to stimulate pDCs which proceed to secrete IFN, furthering the activity of adaptive immunity.
[7] Although the pDC's ability to mass produce type 1 interferon can be effective in targeting a viral infection, it can also lead to Systemic lupus erythematosus if not regulated properly.
Type 1 interferon production is strongly correlated with the progression of lupus, and is thought to drive excessive maturation of pDCs and activation of B cells, among many other effects.
In patients with lupus, pDC levels in the circulating blood are decreased most of the pDCs have migrated toward the inflamed and affected tissues.