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Items: 1 to 20 of 103

1.

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S.

Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018.

2.

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. doi: 10.1016/j.jaci.2016.03.022. Epub 2016 Apr 21.

3.

Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome.

Condliffe AM, Chandra A.

Front Immunol. 2018 Mar 5;9:338. doi: 10.3389/fimmu.2018.00338. eCollection 2018. Review.

4.

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. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.

5.

Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.

Jamee M, Moniri S, Zaki-Dizaji M, Olbrich P, Yazdani R, Jadidi-Niaragh F, Aghamahdi F, Abolhassani H, Condliffe AM, Aghamohammadi A, Azizi G.

Clin Rev Allergy Immunol. 2019 May 21. doi: 10.1007/s12016-019-08738-9. [Epub ahead of print] Review.

PMID:
31111319
6.

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. doi: 10.1111/pai.12585. Epub 2016 May 27. Review.

PMID:
27116393
7.

Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1.

Dornan GL, Siempelkamp BD, Jenkins ML, Vadas O, Lucas CL, Burke JE.

Proc Natl Acad Sci U S A. 2017 Feb 21;114(8):1982-1987. doi: 10.1073/pnas.1617244114. Epub 2017 Feb 6.

8.

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 Apr 5;9:568. doi: 10.3389/fimmu.2018.00568. eCollection 2018.

9.

Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.

Michalovich D, Nejentsev S.

Front Immunol. 2018 Feb 27;9:369. doi: 10.3389/fimmu.2018.00369. eCollection 2018. Review.

10.

Precision treatment with sirolimus in a case of activated phosphoinositide 3-kinase δ syndrome.

Rae W, Ramakrishnan KA, Gao Y, Ashton-Key M, Pengelly RJ, Patel SV, Ennis S, Williams AP, Faust SN.

Clin Immunol. 2016 Oct;171:38-40. doi: 10.1016/j.clim.2016.07.017. Epub 2016 Jul 19. No abstract available.

PMID:
27444043
11.

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 Feb 24. doi: 10.2174/1871530319666190225114739. [Epub ahead of print]

PMID:
30799802
12.

[Clinical and immunological analysis of patients with activated phosphoinositide 3-kinase δ syndrome resulting from PIK3CD mutation].

Tang WJ, Wang W, Luo Y, Wang YP, Li L, An YF, Gou LJ, Ma MS, He TY, Yang J, Zhao XD, Song HM.

Zhonghua Er Ke Za Zhi. 2017 Jan 2;55(1):19-24. doi: 10.3760/cma.j.issn.0578-1310.2017.01.004. Chinese.

PMID:
28072954
13.

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. doi: 10.1016/j.jaci.2016.03.055. Epub 2016 Jul 14.

PMID:
27426521
14.

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. doi: 10.1016/j.clim.2018.08.007. Epub 2018 Aug 20.

PMID:
30138677
15.

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 Feb 14;10:77. doi: 10.3389/fimmu.2019.00077. eCollection 2019.

16.

Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.

Wang Y, Wang W, Liu L, Hou J, Ying W, Hui X, Zhou Q, Liu D, Yao H, Sun J, Wang X.

J Clin Immunol. 2018 Nov;38(8):854-863. doi: 10.1007/s10875-018-0568-x. Epub 2018 Nov 29.

PMID:
30499059
17.

Persistent Impairment of T-Cell Regeneration in a Patient with Activated PI3K δ Syndrome.

Goto F, Uchiyama T, Nakazawa Y, Imai K, Kawai T, Onodera M.

J Clin Immunol. 2017 May;37(4):347-350. doi: 10.1007/s10875-017-0393-7. Epub 2017 Apr 21. No abstract available.

PMID:
28432485
18.

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. doi: 10.1111/cei.12706. Epub 2015 Nov 9.

19.

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. doi: 10.1016/j.imlet.2017.08.021. Epub 2017 Aug 31.

PMID:
28842185
20.

The Treatment of Activated PI3Kδ Syndrome.

Coulter TI, Cant AJ.

Front Immunol. 2018 Sep 7;9:2043. doi: 10.3389/fimmu.2018.02043. eCollection 2018. Review.

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