RP1040
/ Incozen Therapeutics
- LARVOL DELTA
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June 30, 2026
Warts and All? A 14-year Update on the World’s First Renal Transplantation in a Patient with Junctional Epidermolysis Bullosa
(BAD 2026)
- "A 46-yearold Chinese man with compound heterozygosity for a splice mutation (IVS7-12T>A) in intron 7, and a nonsense mutation in exon 21 (p.Trp1040X) within the LAMB3 gene developed declining renal function at 25 years of age, with renal biopsy confirming IgA nephropathy...There were no surgical or anaesthetic complications and immunosuppression with tacrolimus, mycophenolate mofetil and prednisolone was initiated...Due to multiple HPV-related lesions forming in the groin, four serial HPV 9-valent vaccines were administered, with good clinical response; however, crops of new lesions continued to arise...Topical imiquimod and 5-fluorouracil have been employed to treat new areas of Bowen disease, without significant ulceration...This case demonstrates the longest reported follow-up, highlighting that renal transplantation can be safely performed in individuals with junctional epidermolysis bullosa, and with comparable graft survival. Risks from immunosuppression must be..."
Clinical • IO biomarker • Bowens Disease • Dermatology • Glomerulonephritis • IgA Nephropathy • Infectious Disease • Nephrology • Squamous Cell Carcinoma • Transplant Rejection • Transplantation
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