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4. The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS). Fekrvand S; Delavari S; Chavoshzadeh Z; Sherkat R; Mahdaviani SA; Sadeghi Shabestari M; Azizi G; Arzanian MT; Shahin Shamsian B; Eskandarzadeh S; Eslami N; Rae W; Condino-Neto A; Mohammadi J; Abolhassani H; Yazdani R; Aghamohammadi A Immunol Invest; 2022 Apr; 51(3):644-659. PubMed ID: 33401995 [TBL] [Abstract][Full Text] [Related]
5. APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant. Ramirez L; Tamayo W; Ale H J Clin Immunol; 2020 Oct; 40(7):1020-1025. PubMed ID: 32778990 [TBL] [Abstract][Full Text] [Related]
6. Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome. Condliffe AM; Chandra A Front Immunol; 2018; 9():338. PubMed ID: 29556229 [TBL] [Abstract][Full Text] [Related]
7. Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in Szczawińska-Popłonyk A; Bernat-Sitarz K; Schwartzmann E; Piechota M; Badura-Stronka M Allergol Immunopathol (Madr); 2022; 50(4):1-9. PubMed ID: 35789397 [TBL] [Abstract][Full Text] [Related]
8. Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in Dornan GL; Siempelkamp BD; Jenkins ML; Vadas O; Lucas CL; Burke JE Proc Natl Acad Sci U S A; 2017 Feb; 114(8):1982-1987. PubMed ID: 28167755 [TBL] [Abstract][Full Text] [Related]
9. Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies. Karanovic D; Michelow IC; Hayward AR; DeRavin SS; Delmonte OM; Grigg ME; Dobbs AK; Niemela JE; Stoddard J; Alhinai Z; Rybak N; Hernandez N; Pittaluga S; Rosenzweig SD; Uzel G; Notarangelo LD Front Immunol; 2019; 10():77. PubMed ID: 30891027 [TBL] [Abstract][Full Text] [Related]
10. Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome. Asano T; Okada S; Tsumura M; Yeh TW; Mitsui-Sekinaka K; Tsujita Y; Ichinose Y; Shimada A; Hashimoto K; Wada T; Imai K; Ohara O; Morio T; Nonoyama S; Kobayashi M Front Immunol; 2018; 9():568. PubMed ID: 29675019 [TBL] [Abstract][Full Text] [Related]
11. A single center experience on PI3K/AKT/MTOR signaling defects: Towards pathogenicity assessment for four novel defects. Bildik HN; Esenboga S; Halaclı SO; Karaatmaca B; Aytekin ES; Nabiyeva N; Akarsu A; Ocak M; Erman B; Tan C; Arikoglu T; Yaz I; Cicek B; Tezcan I; Cagdas D Pediatr Allergy Immunol; 2024 Sep; 35(9):e14245. PubMed ID: 39312287 [TBL] [Abstract][Full Text] [Related]
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13. Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2. Nguyen T; Lau A; Bier J; Cooke KC; Lenthall H; Ruiz-Diaz S; Avery DT; Brigden H; Zahra D; Sewell WA; Droney L; Okada S; Asano T; Abolhassani H; Chavoshzadeh Z; Abraham RS; Rajapakse N; Klee EW; Church JA; Williams A; Wong M; Burkhart C; Uzel G; Croucher DR; James DE; Ma CS; Brink R; Tangye SG; Deenick EK J Exp Med; 2023 Jun; 220(6):. PubMed ID: 36943234 [TBL] [Abstract][Full Text] [Related]
14. Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy. Michalovich D; Nejentsev S Front Immunol; 2018; 9():369. PubMed ID: 29535736 [TBL] [Abstract][Full Text] [Related]
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16. Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature. Olbrich P; Lorenz M; Cura Daball P; Lucena JM; Rensing-Ehl A; Sanchez B; Führer M; Camacho-Lovillo M; Melon M; Schwarz K; Neth O; Speckmann C Pediatr Allergy Immunol; 2016 Sep; 27(6):640-4. PubMed ID: 27116393 [TBL] [Abstract][Full Text] [Related]
17. [Clinical and immunological characteristics of a case with activated phosphoinositide 3-kinase δ syndrome 2]. Yang QY; Jia YJ; Wang YP; Zeng T; Zhao XD; Zhou LN Zhonghua Er Ke Za Zhi; 2020 May; 58(5):413-417. PubMed ID: 32392959 [No Abstract] [Full Text] [Related]
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