Article Type : Case Report
Volume : 5
Issue : 2
Online ISSN : 2581-4702
Print ISSN : 2581-4699
Article First Page : 74
Article End Page : 77
Introduction: Omenn syndrome, a variant of severe combined immunodeficiency disorder, is a rare condition, with few cases reported in literature.
Case Characteristics: A three month old female infant presented with recurrent severe infections, chronic diarrhea, severe erythroderma and lymphadenopathy. Immunological work-up revealed agammaglobulinemia, with both B cell and T cell deficiency. Genetic studies were compatible with Omenn syndrome.
Outcome: Bone marrow transplantation was planned, but the infant succumbed to complications.
Message: In a young infant with recurrent severe infections, characteristic skin lesions and combined immunodeficiency, Omenn syndrome should be suspected.
Keywords: Immunodeficiency, Omenn syndrome, Early diagnosis.