A single center experience on PI3K/AKT/MTOR signaling defects: Towards pathogenicity assessment for four novel defects.
Hacer Neslihan BildikSaliha EsenbogaSevil Oskay HalacliBetül KaraatmacaElif Soyak AytekinNadira Nabiyeva ÇevikAyşegul AkarsuMelike OcakBaran ErmanÇağman TanTugba ArikogluIsmail YazBegüm ÖzbekF İlhan TezcanDeniz Çağdaş AyvazPublished in: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology (2024)
Differential diagnosis with combined immunodeficiency and diseases of immune dysregulation make molecular genetic analysis crucial for diagnosing mTOR pathway defects. It is easy to differentiate APDS and homozygous PIK3R1 defects with specific laboratory features. Additionally, mTOR pathway functional analysis is a definitive diagnostic and pathogenicity assessment tool for novel APDS mutations.