A Case Series of Omenn Syndrome in Iranian Children

Résumé fourni par la source

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 immunodefi- ciency disorder characterized by generalized erythroderma, lymphoadenopathy, and eosinophilia. The aim of this study was to provide specific information about the clinical, immunological, and genetic character- istics 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, hepatos- plenomegaly, 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 essen- tial for timely and accurate diagnosis, treatment, and family counseling

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