Evolution of a TB-SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection
I Dalal, U Tabori, B Bielorai, H Golan, E Rosenthal… - Clinical …, 2005 - Elsevier
Mutations in both of the recombination activating genes (RAG) 1 and RAG2 can lead to
either TB-severe combined immune deficiency (SCID) or Omenn syndrome (OS), two
diseases presenting with totally different clinical and laboratory manifestations. The fact that
the same mutations can cause either TB-SCID or OS, even within the same family, lends
credibility to the hypothesis that an additional factor (autoantigen or exoantigen) is required
in certain circumstances for the development of OS phenotype. We investigated three …
either TB-severe combined immune deficiency (SCID) or Omenn syndrome (OS), two
diseases presenting with totally different clinical and laboratory manifestations. The fact that
the same mutations can cause either TB-SCID or OS, even within the same family, lends
credibility to the hypothesis that an additional factor (autoantigen or exoantigen) is required
in certain circumstances for the development of OS phenotype. We investigated three …