In this report, we present the diagnostic odyssey for a patient harboring a novel <i>MAGT1</i> variant resulting in XMEN disease.<h4>Case presentation</h4>A 6y old male child of Caucasian ancestry presented at the immunology clinic in our hospital with a history of recurrent upper respiratory tract infections, as well as significant atopy and viral skin lesions. This evidence concerns the gene MAGT1 and Recurrent upper respiratory tract infections.