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

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

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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.

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

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