Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.
The Journal of allergy and clinical immunology, cilt.138, sa.1, 2016 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 138 Sayı: 1
- Basım Tarihi: 2016
- Doi Numarası: 10.1016/j.jaci.2016.03.022
- Dergi Adı: The Journal of allergy and clinical immunology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Anahtar Kelimeler: Primary immunodeficiency, phosphoinositide 3-kinase, p85 alpha, p110 delta, activated phosphoinositide 3-kinase delta syndrome, p110 delta-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency, hyper-IgM, adenopathy, immunodeficiency, antibody deficiency, HUMAN IMMUNODEFICIENCY, MUTATIONS, KINASE, CELLS
- Bursa Uludağ Üniversitesi Adresli: Evet
Özet
Background: Activated phosphoinositide 3-kinase delta syndrome (APDS) 2 (p110 delta-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency [PASLI]-R1), a recently described primary immunodeficiency, results from autosomal dominant mutations in PIK3R1, the gene encoding the regulatory subunit (p85 alpha, p55 alpha, and p50 alpha) of class IA phosphoinositide 3-kinases.