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

• Published in: Clinical immunology (Orlando, Fla.) Fla.), 2005-04, Vol.115 (1), p.70-73
• Main Authors: Dalal, Ilan, Tabori, Uri, Bielorai, Bela, Golan, Hana, Rosenthal, Eli, Amariglio, Ninette, Rechavi, Gidi, Toren, Amos
• Format: Article
• Language: English
• Subjects: B-Lymphocytes - immunology; Biological and medical sciences; DNA - chemistry; DNA - genetics; DNA-Binding Proteins - genetics; DNA-Binding Proteins - immunology; Exoantigen; Fatal Outcome; Female; Fundamental and applied biological sciences. Psychology; Fundamental immunology; Genotype–phenotype correlation; Homeodomain Proteins - genetics; Homeodomain Proteins - immunology; Humans; Immunopathology; Infant; Male; Medical sciences; Mutation; Nuclear Proteins; Omenn syndrome; Parainfluenza virus; Parainfluenza virus 3; Parainfluenza Virus 3, Human; Parainfluenza virus infection; Polymerase Chain Reaction; RAG mutation; Respirovirus Infections - genetics; Respirovirus Infections - immunology; Sequence Analysis, DNA; Severe Combined Immunodeficiency - genetics; Severe Combined Immunodeficiency - immunology; Severe Combined Immunodeficiency - virology; T cell rearrangement; T-B- SCID; T-Lymphocytes - immunology
• ISSN: 1521-6616; 1521-7035
• DOI: 10.1016/j.clim.2004.08.016

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.