A Case Series of Omenn Syndrome in Iranian Children

Abstract

Background: Severe combined immunodeficiencies (SCIDs) are a group of disorders with variable clinical phenotypes, usually presenting with life-threatening infections. This type of immunodeficiency results from defective differentiation of hematopoietic stem cells into mature T lymphocytes leading to various identified affected genotypes of severe immunodeficiency. Omenn syndrome is an autosomal recessive immunodeficiency disorder characterized by generalized erythroderma, lymphoadenopathy, and eosinophilia. The aim of this study was to provide specific information about the clinical, immunological, and genetic characteristics in this context.

Methods: A retrospective case review was conducted at Shahid Beheshti, Children Medical Center and Azad University Hospitals of Tehran so that the patients with a previously diagnosis of Omenn syndrome, admitted between years 2016 and 2023, were selected and included in this study.

Results: Eleven patients with known Omenn syndrome were included in our study. The mean age of onset in the patients was 45 days old. Six (54.5%) were female and 5 (45.5%) were male. There was a history of parental consanguinity in 10 out of 11 studied children (91%). BCG dissemination, erythroderma, hepatosplenomegaly, lymphadenopathies, failure to thrive, recurrent infections, and gastrointestinal manifestations were more prominent. Other presentations in order of frequency were failure to thrive (90.9%), recurrent infections (63.6%), erythroderma (63%), hepatosplenomegaly (45.5%), lymphadenopathy (36.4%), and BCG dissemination (27.3%).

Conclusion: As Omenn syndrome is a type of SCID and a pediatric immunologic emergency, awareness about the various clinical manifestations of the disease among people of different ethnicities is highly essential for timely and accurate diagnosis, treatment, and family counseling.