455 related articles for article (PubMed ID: 25488983)
1. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.
Lucas CL; Zhang Y; Venida A; Wang Y; Hughes J; McElwee J; Butrick M; Matthews H; Price S; Biancalana M; Wang X; Richards M; Pozos T; Barlan I; Ozen A; Rao VK; Su HC; Lenardo MJ
J Exp Med; 2014 Dec; 211(13):2537-47. PubMed ID: 25488983
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.
Petrovski S; Parrott RE; Roberts JL; Huang H; Yang J; Gorentla B; Mousallem T; Wang E; Armstrong M; McHale D; MacIver NJ; Goldstein DB; Zhong XP; Buckley RH
J Clin Immunol; 2016 Jul; 36(5):462-71. PubMed ID: 27076228
[TBL] [Abstract][Full Text] [Related]
4. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.
Elkaim E; Neven B; Bruneau J; Mitsui-Sekinaka K; Stanislas A; Heurtier L; Lucas CL; Matthews H; Deau MC; Sharapova S; Curtis J; Reichenbach J; Glastre C; Parry DA; Arumugakani G; McDermott E; Kilic SS; Yamashita M; Moshous D; Lamrini H; Otremba B; Gennery A; Coulter T; Quinti I; Stephan JL; Lougaris V; Brodszki N; Barlogis V; Asano T; Galicier L; Boutboul D; Nonoyama S; Cant A; Imai K; Picard C; Nejentsev S; Molina TJ; Lenardo M; Savic S; Cavazzana M; Fischer A; Durandy A; Kracker S
J Allergy Clin Immunol; 2016 Jul; 138(1):210-218.e9. PubMed ID: 27221134
[TBL] [Abstract][Full Text] [Related]
5. Molecular Mechanisms of Human Disease Mediated by Oncogenic and Primary Immunodeficiency Mutations in Class IA Phosphoinositide 3-Kinases.
Dornan GL; Burke JE
Front Immunol; 2018; 9():575. PubMed ID: 29616047
[TBL] [Abstract][Full Text] [Related]
6. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.
Lucas CL; Kuehn HS; Zhao F; Niemela JE; Deenick EK; Palendira U; Avery DT; Moens L; Cannons JL; Biancalana M; Stoddard J; Ouyang W; Frucht DM; Rao VK; Atkinson TP; Agharahimi A; Hussey AA; Folio LR; Olivier KN; Fleisher TA; Pittaluga S; Holland SM; Cohen JI; Oliveira JB; Tangye SG; Schwartzberg PL; Lenardo MJ; Uzel G
Nat Immunol; 2014 Jan; 15(1):88-97. PubMed ID: 24165795
[TBL] [Abstract][Full Text] [Related]
7. Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.
Hauck F; Magg T; Krolo A; Bilic I; Hirschmugl T; Laass M; Rösen-Wolff A; Luksch H; Boztug K; Roesler J
Klin Padiatr; 2017 May; 229(3):113-117. PubMed ID: 28561224
[No Abstract] [Full Text] [Related]
8. Genetic Defects in Phosphoinositide 3-Kinase δ Influence CD8
Cannons JL; Preite S; Kapnick SM; Uzel G; Schwartzberg PL
Front Immunol; 2018; 9():1758. PubMed ID: 30116245
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A human immunodeficiency caused by mutations in the PIK3R1 gene.
Deau MC; Heurtier L; Frange P; Suarez F; Bole-Feysot C; Nitschke P; Cavazzana M; Picard C; Durandy A; Fischer A; Kracker S
J Clin Invest; 2014 Sep; 124(9):3923-8. PubMed ID: 25133428
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Activation of PI3K/Akt signaling by n-terminal SH2 domain mutants of the p85α regulatory subunit of PI3K is enhanced by deletion of its c-terminal SH2 domain.
Hofmann BT; Jücker M
Cell Signal; 2012 Oct; 24(10):1950-4. PubMed ID: 22735814
[TBL] [Abstract][Full Text] [Related]
13. PIK3R1 Mutation Associated with Hyper IgM (APDS2 Syndrome): A Case Report and Review of the Literature.
Yazdani R; Hamidi Z; Babaha F; Azizi G; Fekrvand S; Abolhassani H; Aghamohammadi A
Endocr Metab Immune Disord Drug Targets; 2019; 19(7):941-958. PubMed ID: 30799802
[TBL] [Abstract][Full Text] [Related]
14. Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency.
Tsujita Y; Mitsui-Sekinaka K; Imai K; Yeh TW; Mitsuiki N; Asano T; Ohnishi H; Kato Z; Sekinaka Y; Zaha K; Kato T; Okano T; Takashima T; Kobayashi K; Kimura M; Kunitsu T; Maruo Y; Kanegane H; Takagi M; Yoshida K; Okuno Y; Muramatsu H; Shiraishi Y; Chiba K; Tanaka H; Miyano S; Kojima S; Ogawa S; Ohara O; Okada S; Kobayashi M; Morio T; Nonoyama S
J Allergy Clin Immunol; 2016 Dec; 138(6):1672-1680.e10. PubMed ID: 27426521
[TBL] [Abstract][Full Text] [Related]
15. PI3Kδ and primary immunodeficiencies.
Lucas CL; Chandra A; Nejentsev S; Condliffe AM; Okkenhaug K
Nat Rev Immunol; 2016 Nov; 16(11):702-714. PubMed ID: 27616589
[TBL] [Abstract][Full Text] [Related]
16. Too much of a good thing: immunodeficiency due to hyperactive PI3K signaling.
Walsh CM; Fruman DA
J Clin Invest; 2014 Sep; 124(9):3688-90. PubMed ID: 25133419
[TBL] [Abstract][Full Text] [Related]
17. Herpesviruses in the Activated Phosphatidylinositol-3-Kinase-δ Syndrome.
Cohen JI
Front Immunol; 2018; 9():237. PubMed ID: 29599765
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.
Coulter TI; Chandra A; Bacon CM; Babar J; Curtis J; Screaton N; Goodlad JR; Farmer G; Steele CL; Leahy TR; Doffinger R; Baxendale H; Bernatoniene J; Edgar JD; Longhurst HJ; Ehl S; Speckmann C; Grimbacher B; Sediva A; Milota T; Faust SN; Williams AP; Hayman G; Kucuk ZY; Hague R; French P; Brooker R; Forsyth P; Herriot R; Cancrini C; Palma P; Ariganello P; Conlon N; Feighery C; Gavin PJ; Jones A; Imai K; Ibrahim MA; Markelj G; Abinun M; Rieux-Laucat F; Latour S; Pellier I; Fischer A; Touzot F; Casanova JL; Durandy A; Burns SO; Savic S; Kumararatne DS; Moshous D; Kracker S; Vanhaesebroeck B; Okkenhaug K; Picard C; Nejentsev S; Condliffe AM; Cant AJ
J Allergy Clin Immunol; 2017 Feb; 139(2):597-606.e4. PubMed ID: 27555459
[TBL] [Abstract][Full Text] [Related]
20. Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.
Hartman HN; Niemela J; Hintermeyer MK; Garofalo M; Stoddard J; Verbsky JW; Rosenzweig SD; Routes JM
J Clin Immunol; 2015 Jan; 35(1):11-4. PubMed ID: 25352054
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]