A Novel Mutation in the TAP2 Gene in Bare Lymphocyte Syndrome: Association With Metastatic Cutaneous Squamous Cell Carcinoma

Bare lymphocyte syndrome: An opportunity to discover our immune system

“…Cancers due to the loss or mutation of ␤2M are also reported but no such mutations are defined for BLS disease [145][146][147]. Similarly, squamous cell carcinoma in a TAP2 deficient patient has raised a serious question about the risk linked to MHC deficiency [40]. Although it was in contradiction to the observation made in a mouse model where TAP deficiency had little or no effect in the tumor incidence [148], it was an obvious reminder of the correlation between MHC deficiency and cancer [149][150][151].…”

“…Until now, 20 cases have been documented [19,[37][38][39][40]. Mutations in each of the TAP subunits have been found in separate cases.…”