Omenn's Syndrome: A rare primary immunodeficiency disorder

Area of Science:

• Immunology
• Genetics
• Pediatrics

Background:

• Severe combined immunodeficiency (SCID) encompasses various genetic disorders affecting T-cell development.
• Omenn's syndrome is a rare, autosomal recessive SCID variant characterized by severe immune dysregulation.
• Sultan Qaboos University Hospital has diagnosed diverse SCID forms over 17 years.

Purpose of the Study:

• To report a case of Omenn's syndrome in an Omani infant.
• To describe the clinical and immunological presentation of Omenn's syndrome.
• To review the immunological aspects of this rare SCID subtype.

Main Methods:

• Case report of a 6-week-old Omani infant.
• Clinical and immunological evaluation.
• Literature review of Omenn's syndrome.

Main Results:

• The infant presented with the characteristic phenotype of Omenn's syndrome.
• Detailed immunological findings consistent with the syndrome were observed.
• The case aligns with known features of Omenn's syndrome.

Conclusions:

• Omenn's syndrome is a critical diagnosis in infants presenting with combined immunodeficiency.
• Early recognition and understanding of immunological derangements are vital for management.
• This case contributes to the understanding of Omenn's syndrome in the Omani population.