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Omenn Syndrome : Two Case Reports

Nadia Siala ; Tunis El Manar University
Ons Azzabi
Hakima Kebaier
Ridha Mrad
olfa rebah
Ridha Barbouche
Mohamed Bejaoui
Sonia Halioui
Ahmed Maherzi

Puni tekst: engleski PDF 143 Kb

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preuzimanja: 999



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.

Ključne riječi

Omenn syndrome, severe combined immunodeficiency, bone marrow

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