Omenn Syndrome : Two Case Reports

Omenn syndrome is a variant of combined severe immunodeficiencydue to mutations in RAG genes. It is characterized by polymorph symptoms andlethal outcome. We report on two cases of Omenn syndrome. Infants were aged 50and 46 days. The clinical and biological signs were typical and complete in the firstcase. In the second case, only the cutaneous signs were present. Diagnosis was confirmedby genetic study. The Rag1 T631 mutation was found in these two patients.Hematopoietic stem cell transplantation could not be done and the evolution wasfatal in both cases because of severe infectious episodes. Prenatal diagnosis wasperformed in the two families and each family has currently a healthy child. In conclusion,early diagnosis of Omenn syndrome may avoid infectious complicationsresponsible for delay in therapeutic management. Genetic study confirms the diagnosis.The treatment usually consists of hematopoietic stem cell transplantationin association with immunosuppressive drugs. Prenatal diagnosis is very importantto allow parents to have healthy children.</p