Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection

Ilan Dalal*, Uri Tabori, Bela Bielorai, Hana Golan, Eli Rosenthal, Ninette Amariglio, Gidi Rechavi, Amos Toren

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Mutations in both of the recombination activating genes (RAG)1 and RAG2 can lead to either T-B-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 T-B- 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 patients from the same extended family who presented as T-B- SCID due to a homozygous mutation (G1305T) in the RAG2 gene. Our data support the notion that mutated RAG proteins may not always be sufficient to cause OS phenotype, and show evolution from a T-B- SCID into a typical OS phenotype subsequent to parainfluenza 3 virus infection.

Original languageEnglish
Pages (from-to)70-73
Number of pages4
JournalClinical Immunology
Issue number1 SPEC. ISS.
StatePublished - Apr 2005


  • Exoantigen
  • Genotype-phenotype correlation
  • Omenn syndrome
  • Parainfluenza virus infection
  • RAG mutation
  • T cell rearrangement
  • T-B- SCID


Dive into the research topics of 'Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection'. Together they form a unique fingerprint.

Cite this