Julia S. Lehman, M.D.

The purpose of this study is to obtain serum from patients with certain rare immunobullous diseases (e.g., paraneoplastic pemphigus, laminin-332 pemphigoid) to replenish a source of positive control for our clinical testing (e.g., Mayo test codes PNPAB, RSBV).  

• To verify the performance characteristics of anti-Paraneoplastic Pemphigus (PNP) serum and validate its use as a positive control in PNP test.  

• Serum from patients with PNP will be used for a positive control for the PNP test upon successful validation. 

Background:  

For various rare immunobullous diseases, detection of a circulating autoantibody is necessary for accurate diagnosis. As a CLIA requirement, every clinical test run requires positive and negative controls for quality control.  Currently, we use either archived sera or commercially available sera from patients with known relevant immunobullous diseases as a structural integrity positive control of rat bladder or transfected cells, which are the substrates for these indirect immunofluorescence tests.  

While we have no difficulty locating negative control sera, it is challenging to source positive control sera, due to the rarity of these diseases. Specifically, commercial positive control serum is no longer available for purchase and only limited archived material is available. 

The purpose of this study is to evaluate the effectiveness and safety of oral PRN1008 in moderate to severe pemphigus.

Inflammatory dermatoses are sometimes difficult to diagnose with accuracy using current methods (clinical examination and routine skin biopsy). Targeted therapies (biologics) are available for severe inflammatory dermatoses, but selection of which particular biologic agent to use is often arbitrary. Trials of these medications are expensive and may be multiple before an effective treatment is found.
We propose to develop tissue-based biomarker assays for the diagnosis and therapeutic prognosis for inflammatory skin diseases.

The purpose of this study is to validate the diagnostic and prognostic utility of our tissue-based assay, the aim is to perform a multi-institution, retrospective study of our assay compared with the current clinical gold standard (clinicopathologic correlation and prospective observation of clinical course, respectively). 

The purpose of this study is to assess the degree of signal alterations or attenuation in formalin-fixed vs. fresh skin biopsy specimens of inflammatory skin disease, using molecular methods .