Omenn syndrome with mutation in RAG1 gene

I. Cherkaoui Jaouad, K. Ouldim, S. Ali Ou Alla, Y. Kriouile, A. Villa, A. Sefiani

Research output: Contribution to journalArticle

Abstract

Omenn syndrome is a form of severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Inherited hypomorphic mutations in the recombination activating genes 1 and 2 (RAG1 and RAG2) and in ARTEMIS genes and more recently defects in IL7RA, and RMRP genes have been described to be responsible of this peculiar immunodeficiency. The authors report here a Moroccan patient of four-months-old with classical features of Omenn Syndrome, carrying a deletion at the N terminal part of RAG1. Early recognition of this condition is important for genetic counseling and early treatment.

Original languageEnglish
Pages (from-to)944-946
Number of pages3
JournalIndian Journal of Pediatrics
Volume75
Issue number9
DOIs
Publication statusPublished - Sep 2008

Keywords

  • Omenn syndrome
  • RAG
  • Severe combined immunodeficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Jaouad, I. C., Ouldim, K., Ali Ou Alla, S., Kriouile, Y., Villa, A., & Sefiani, A. (2008). Omenn syndrome with mutation in RAG1 gene. Indian Journal of Pediatrics, 75(9), 944-946. https://doi.org/10.1007/s12098-008-0197-0