Subject(s)
Immunosuppressive Agents/therapeutic use , Negative-Pressure Wound Therapy/methods , Pyoderma Gangrenosum/diagnosis , Pyoderma Gangrenosum/therapy , Skin Transplantation/methods , Adult , Aged , Combined Modality Therapy , Female , Follow-Up Studies , Humans , Male , Middle Aged , Rare Diseases , Recurrence , Risk Assessment , Sampling Studies , Severity of Illness Index , Skin Transplantation/adverse effects , Treatment Outcome , Wound Healing/physiologyABSTRACT
A patient was diagnosed with leukocyte adhesion deficiency-1. She was born in 1996 and her parents are not known to be related. Her leukocytes expressed less than 2% of the CD18 antigens relative to normal individuals. Molecular analysis revealed that she is a compound heterozygote. She inherited a 27,703bp deletion from her father (g.43201_PTTG1IP:10890del27703), spanning from intron 11 of the gene for the ß2 integrin (ITGB2, CD18, NG_007270.2) to intron 2 of the gene for the Pituitary Tumor-Transforming Gene 1 Interacting Protein (PTTG1IP, NC_000021.8). The maternal allele has a g.23457C>A mutation at position -10 in intron 2 of the ITGB2 gene, resulting in the activation of a cryptic 3' splice site in intron 2 to include 43 intronic nucleotides (r.[59-43_59-1ins;59-10C>A]).
