271 related articles for article (PubMed ID: 27116393)
21. 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]
22. 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]
23. Interim analysis: Open-label extension study of leniolisib for patients with APDS.
Rao VK; Kulm E; Šedivá A; Plebani A; Schuetz C; Shcherbina A; Dalm VA; Trizzino A; Zharankova Y; Webster S; Orpia A; Körholz J; Lougaris V; Rodina Y; Radford K; Bradt J; Relan A; Holland SM; Lenardo MJ; Uzel G
J Allergy Clin Immunol; 2024 Jan; 153(1):265-274.e9. PubMed ID: 37797893
[TBL] [Abstract][Full Text] [Related]
24. Identification of a novel de novo gain-of-function mutation of PIK3CD in a patient with activated phosphoinositide 3-kinase δ syndrome.
Luo Y; Xia Y; Wang W; Li Z; Jin Y; Gong Y; He T; Li Q; Li C; Yang J
Clin Immunol; 2018 Dec; 197():60-67. PubMed ID: 30138677
[TBL] [Abstract][Full Text] [Related]
25. Exhaustion of the CD8
Wentink MWJ; Mueller YM; Dalm VASH; Driessen GJ; van Hagen PM; van Montfrans JM; van der Burg M; Katsikis PD
Front Immunol; 2018; 9():446. PubMed ID: 29563914
[TBL] [Abstract][Full Text] [Related]
26. Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.
Elgizouli M; Lowe DM; Speckmann C; Schubert D; Hülsdünker J; Eskandarian Z; Dudek A; Schmitt-Graeff A; Wanders J; Jørgensen SF; Fevang B; Salzer U; Nieters A; Burns S; Grimbacher B
Clin Exp Immunol; 2016 Feb; 183(2):221-9. PubMed ID: 26437962
[TBL] [Abstract][Full Text] [Related]
27. PI3K pathway defects leading to immunodeficiency and immune dysregulation.
Nunes-Santos CJ; Uzel G; Rosenzweig SD
J Allergy Clin Immunol; 2019 May; 143(5):1676-1687. PubMed ID: 31060715
[TBL] [Abstract][Full Text] [Related]
28. Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
Bravo García-Morato M; García-Miñaúr S; Molina Garicano J; Santos Simarro F; Del Pino Molina L; López-Granados E; Ferreira Cerdán A; Rodríguez Pena R
Clin Immunol; 2017 Jun; 179():77-80. PubMed ID: 28302518
[TBL] [Abstract][Full Text] [Related]
29. Immunodeficiency due to a novel variant in PIK3CD: a case report.
Shashaani N; Chavoshzadeh Z; Ghasemi L; Ghotbabadi SH; Shiari S; Sharafian S; Shiari R
Pediatr Rheumatol Online J; 2023 Jul; 21(1):71. PubMed ID: 37475052
[TBL] [Abstract][Full Text] [Related]
30. Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan.
Moriya K; Mitsui-Sekinaka K; Sekinaka Y; Endo A; Kanegane H; Morio T; Imai K; Nonoyama S
Immunol Med; 2023 Dec; 46(4):153-157. PubMed ID: 37178059
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Modulating the PI3K Signalling Pathway in Activated PI3K Delta Syndrome: a Clinical Perspective.
Berglund LJ
J Clin Immunol; 2023 Dec; 44(1):34. PubMed ID: 38148368
[TBL] [Abstract][Full Text] [Related]
33. Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen.
Saettini F; Pelagatti MA; Sala D; Moratto D; Giliani S; Badolato R; Biondi A
Immunol Lett; 2017 Oct; 190():279-281. PubMed ID: 28842185
[TBL] [Abstract][Full Text] [Related]
34. Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.
Hong Y; Nanthapisal S; Omoyinmi E; Olbrich P; Neth O; Speckmann C; Lucena JM; Gilmour K; Worth A; ; Klein N; Eleftheriou D; Brogan P
Front Immunol; 2019; 10():2589. PubMed ID: 31781101
[TBL] [Abstract][Full Text] [Related]
35. Homeostatic and pathogenic roles of PI3Kδ in the human immune system.
Sogkas G; Adriawan IR; Dubrowinskaja N; Atschekzei F; Schmidt RE
Adv Immunol; 2020; 146():109-137. PubMed ID: 32327151
[TBL] [Abstract][Full Text] [Related]
36. Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.
Thouenon R; Moreno-Corona N; Poggi L; Durandy A; Kracker S
Front Pediatr; 2021; 9():652405. PubMed ID: 34249806
[TBL] [Abstract][Full Text] [Related]
37. Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.
Takeda AJ; Zhang Y; Dornan GL; Siempelkamp BD; Jenkins ML; Matthews HF; McElwee JJ; Bi W; Seeborg FO; Su HC; Burke JE; Lucas CL
J Allergy Clin Immunol; 2017 Oct; 140(4):1152-1156.e10. PubMed ID: 28414062
[No Abstract] [Full Text] [Related]
38. Modern management of primary T-cell immunodeficiencies.
Pachlopnik Schmid J; Güngör T; Seger R
Pediatr Allergy Immunol; 2014 Jun; 25(4):300-13. PubMed ID: 24383740
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1.
Okano T; Imai K; Tsujita Y; Mitsuiki N; Yoshida K; Kamae C; Honma K; Mitsui-Sekinaka K; Sekinaka Y; Kato T; Hanabusa K; Endo E; Takashima T; Hiroki H; Yeh TW; Tanaka K; Nagahori M; Tsuge I; Bando Y; Iwasaki F; Shikama Y; Inoue M; Kimoto T; Moriguchi N; Yuza Y; Kaneko T; Suzuki K; Matsubara T; Maruo Y; Kunitsu T; Waragai T; Sano H; Hashimoto Y; Tasaki K; Suzuki O; Shirakawa T; Kato M; Uchiyama T; Ishimura M; Tauchi T; Yagasaki H; Jou ST; Yu HH; Kanegane H; Kracker S; Durandy A; Kojima D; Muramatsu H; Wada T; Inoue Y; Takada H; Kojima S; Ogawa S; Ohara O; Nonoyama S; Morio T
J Allergy Clin Immunol; 2019 Jan; 143(1):266-275. PubMed ID: 29778502
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
