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Year 2020

Volume: 6 , Issue: 1

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IP International Journal of Medical Paediatrics and Oncology

Omenn syndrome- A rare immunodeficiency disorder: A case report

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Case Report

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

Volume : 5, Issue : 2, Year : 2019

Article Page : 74-77

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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 : 10.18231/j.ijmpo.2019.017

How to cite : Panuganti S K, Patil V C, Vempati V, Raju U, Guru Raghavendra K, Omenn syndrome- A rare immunodeficiency disorder: A case report. IP Int J Med Paediatr Oncol 2019;5(2):74-77

Copyright © 2019 by author(s) and IP Int J Med Paediatr Oncol. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (CC-BY-NC 4.0) (