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

5 Citations (Scopus)

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

Fingerprint

Severe Combined Immunodeficiency
Mutation
RAG-1 Genes
Genes
Alopecia
Genetic Counseling
Therapeutics

Keywords

  • Omenn syndrome
  • RAG
  • Severe combined immunodeficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

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

Omenn syndrome with mutation in RAG1 gene. / Jaouad, I. Cherkaoui; Ouldim, K.; Ali Ou Alla, S.; Kriouile, Y.; Villa, A.; Sefiani, A.

In: Indian Journal of Pediatrics, Vol. 75, No. 9, 09.2008, p. 944-946.

Research output: Contribution to journalArticle

Jaouad, IC, Ouldim, K, Ali Ou Alla, S, Kriouile, Y, Villa, A & Sefiani, A 2008, 'Omenn syndrome with mutation in RAG1 gene', Indian Journal of Pediatrics, vol. 75, no. 9, pp. 944-946. https://doi.org/10.1007/s12098-008-0197-0
Jaouad IC, Ouldim K, Ali Ou Alla S, Kriouile Y, Villa A, Sefiani A. Omenn syndrome with mutation in RAG1 gene. Indian Journal of Pediatrics. 2008 Sep;75(9):944-946. https://doi.org/10.1007/s12098-008-0197-0
Jaouad, I. Cherkaoui ; Ouldim, K. ; Ali Ou Alla, S. ; Kriouile, Y. ; Villa, A. ; Sefiani, A. / Omenn syndrome with mutation in RAG1 gene. In: Indian Journal of Pediatrics. 2008 ; Vol. 75, No. 9. pp. 944-946.
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