Ontology highlight
ABSTRACT:
SUBMITTER: Albuquerque AS
PROVIDER: S-EPMC3349657 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Albuquerque Adriana S AS Albuquerque Adriana S AS Marques José G JG Silva Susana L SL Ligeiro Dario D Devlin Blythe H BH Dutrieux Jacques J Cheynier Rémi R Pignata Claudio C Victorino Rui M M RM Markert M Louise ML Sousa Ana E AE
PloS one 20120510 5
Forkhead box N1 (FOXN1) is a transcription factor crucial for thymic epithelium development and prevention of its involution. Investigation of a patient with a rare homozygous FOXN1 mutation (R255X), leading to alopecia universalis and thymus aplasia, unexpectedly revealed non-maternal circulating T-cells, and, strikingly, large numbers of aberrant double-negative αβ T-cells (CD4negCD8neg, DN) and regulatory-like T-cells. These data raise the possibility that a thymic rudiment persisted, allowin ...[more]