A single center experience on <scp>PI3K</scp>/<scp>AKT</scp>/<scp>MTOR</scp> signaling defects: Towards pathogenicity assessment for four novel defects
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.
Authors
- Melike Ocak (ORCID: https://orcid.org/0000-0001-7841-4690)
- Tuğba Arıkoğlu (ORCID: https://orcid.org/0000-0003-3340-571X)
- Hacer Neslihan Bildik (ORCID: https://orcid.org/0000-0002-2801-8494)
- Elif Soyak Aytekin (ORCID: https://orcid.org/0000-0002-2329-7543)
- Betül Karaatmaca (ORCID: https://orcid.org/0000-0002-8383-6350)
- Baran Erman (ORCID: https://orcid.org/0000-0001-9398-8465)
- Sevil Oskay Halaçlı (ORCID: https://orcid.org/0000-0003-1101-1779)
- İlhan Tezcan (ORCID: https://orcid.org/0000-0001-7257-4554)
- İsmail Yaz (ORCID: https://orcid.org/0000-0001-5278-7456)
- Saliha Esenboğa (ORCID: https://orcid.org/0000-0003-0562-9863)
- Deniz Çağdaş (ORCID: https://orcid.org/0000-0003-2213-4627)
- Çağman Tan (ORCID: https://orcid.org/0000-0001-6972-1349)
- Ayşegül Akarsu (ORCID: https://orcid.org/0000-0002-1544-3408)
- Nadira Nabiyeva
- Begum Cicek
Institutions
- Hacettepe University Hospital (TR)
- Ankara Bilkent City Hospital (TR)
- Mersin Üniversitesi (TR)
- Hacettepe University (TR)
Publication Details
- Journal
- Pediatric Allergy and Immunology
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1111/pai.14245
- Citations
- 2
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.48
Funders
- Türkiye Bilimsel ve Teknolojik Araştırma Kurumu