IP International Journal of Medical Paediatrics and Oncology


Omenn syndrome- A rare immunodeficiency disorder: A case report


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Article Type : Case Report

Author Details: Suresh Kumar Panuganti,Veerendra C Patil,Venkteshwar Vempati,Uma Raju,Guru Raghavendra K*

Volume : 5

Issue : 2

Online ISSN : 2581-4702

Print ISSN : 2581-4699

Article First Page : 74

Article End Page : 77


Abstract

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.

Doi :-https://doi.org/10.18231/j.ijmpo.2019.017