A Case Series of Omenn Syndrome in Iranian Children

Pegah  Mahdiyar; Hassan  Abolhassani; Nima  Rezaei; Samaneh  Delavari; Sepideh  Darougar; Samin  Sharafian; Zahra  Chavoshzadeh

doi:10.18502/igj.v9i1.21881

Pegah Mahdiyar Department of Pediatrics, Faculty of Medicine, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran
Hassan Abolhassani Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
Nima Rezaei Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
Samaneh Delavari Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
Sepideh Darougar Department of Pediatrics, Faculty of Medicine, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran
Samin Sharafian Department of Allergy and Clinical Immunology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Zahra Chavoshzadeh Department of Allergy and Clinical Immunology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

DOI: https://doi.org/10.18502/igj.v9i1.21881

Keywords: Consensus; Omenn Syndrome; Primary Immunodeficiency; Severe Combined Im- munodeficiency; SCID

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 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