Omenn Syndrome: Two Case Reports

Abstract : Omenn syndrome is a variant of combined severe immunodeficiency due to mutations in RAG genes. It is characterized by polymorph symptoms and lethal outcome. We report on two cases of Omenn syndrome. Infants were aged 50 and 46 days. The clinical and biological signs were typical and complete in the first case. In the second case, only the cutaneous signs were present. Diagnosis was confirmed by genetic study. The Rag1 T631 mutation was found in these two patients. Hematopoietic stem cell transplantation could not be done and the evolution was fatal in both cases because of severe infectious episodes. Prenatal diagnosis was performed in the two families and each family has currently a healthy child. In conclusion, early diagnosis of Omenn syndrome may avoid infectious complications responsible for delay in therapeutic management. Genetic study confirms the diagnosis. The treatment usually consists of hematopoietic stem cell transplantation in association with immunosuppressive drugs. Prenatal diagnosis is very important to allow parents to have healthy children.
Type de document :
Article dans une revue
Acta Dermatovenerologica Croatica, Croatian Medical Association, 2013, 21 (4), pp.259-262
Liste complète des métadonnées

https://hal-riip.archives-ouvertes.fr/pasteur-01375120
Contributeur : Institut Pasteur Tunis <>
Soumis le : dimanche 2 octobre 2016 - 23:19:50
Dernière modification le : lundi 5 février 2018 - 15:22:09

Identifiants

  • HAL Id : pasteur-01375120, version 1
  • PUBMED : 24476615

Collections

Citation

Nadia Siala, Ons Azzabi, Hakima Kebaier, Ridha Mrad, Olfa Rebah, et al.. Omenn Syndrome: Two Case Reports. Acta Dermatovenerologica Croatica, Croatian Medical Association, 2013, 21 (4), pp.259-262. 〈pasteur-01375120〉

Partager

Métriques

Consultations de la notice

50