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Items: 1 to 50 of 123

1.

Prospective Study of a Novel, Radiation-Free, Reduced-Intensity Bone Marrow Transplantation Platform for Primary Immunodeficiency Diseases.

Dimitrova D, Gea-Banacloche J, Steinberg SM, Sadler JL, Hicks SN, Carroll E, Wilder JS, Parta M, Skeffington L, Hughes TE, Blau JE, Broadney MM, Rose JJ, Hsu AP, Fletcher R, Nunes NS, Yan XY, Telford WG, Kapoor V, Cohen JI, Freeman AF, Garabedian E, Holland SM, Lisco A, Malech HL, Notarangelo LD, Sereti I, Shah NN, Uzel G, Zerbe CS, Fowler DH, Gress RE, Kanakry CG, Kanakry JA.

Biol Blood Marrow Transplant. 2019 Sep 4. pii: S1083-8791(19)30558-0. doi: 10.1016/j.bbmt.2019.08.018. [Epub ahead of print]

PMID:
31493539
2.

STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.

Zimmerman O, Olbrich P, Freeman AF, Rosen LB, Uzel G, Zerbe CS, Rosenzweig SD, Kuehn HS, Holmes KL, Stephany D, Ding L, Sampaio EP, Hsu AP, Holland SM.

Front Immunol. 2019 Jul 10;10:1433. doi: 10.3389/fimmu.2019.01433. eCollection 2019.

3.

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. doi: 10.1016/j.jaci.2019.03.017. Review.

PMID:
31060715
4.

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.

Pillay BA, Avery DT, Smart JM, Cole T, Choo S, Chan D, Gray PE, Frith K, Mitchell R, Phan TG, Wong M, Campbell DE, Hsu P, Ziegler JB, Peake J, Alvaro F, Picard C, Bustamante J, Neven B, Cant AJ, Uzel G, Arkwright PD, Casanova JL, Su HC, Freeman AF, Shah N, Hickstein DD, Tangye SG, Ma CS.

JCI Insight. 2019 Apr 25;5. pii: 127527. doi: 10.1172/jci.insight.127527.

5.

Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD-the Goldilocks' Effect.

Tangye SG, Bier J, Lau A, Nguyen T, Uzel G, Deenick EK.

J Clin Immunol. 2019 Feb;39(2):148-158. doi: 10.1007/s10875-019-00612-9. Epub 2019 Mar 25. Review.

PMID:
30911953
6.

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.

7.

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.

Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK.

J Allergy Clin Immunol. 2019 Jul;144(1):236-253. doi: 10.1016/j.jaci.2019.01.033. Epub 2019 Feb 6.

PMID:
30738173
8.

Successful Bone Marrow Transplantation for XMEN: Hemorrhagic Risk Uncovered.

Dimitrova D, Rose JJ, Uzel G, Cohen JI, Rao KV, Bleesing JH, Kanakry CG, Kanakry JA.

J Clin Immunol. 2019 Jan;39(1):1-3. doi: 10.1007/s10875-018-0573-0. Epub 2018 Nov 23. No abstract available.

PMID:
30470981
9.

Effect of antibiotic treatment and gamma-irradiation on cuticular hydrocarbon profiles and mate choice in tsetse flies (Glossina m. morsitans).

Engl T, Michalkova V, Weiss BL, Uzel GD, Takac P, Miller WJ, Abd-Alla AMM, Aksoy S, Kaltenpoth M.

BMC Microbiol. 2018 Nov 23;18(Suppl 1):145. doi: 10.1186/s12866-018-1292-7.

10.

Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity.

Preite S, Cannons JL, Radtke AJ, Vujkovic-Cvijin I, Gomez-Rodriguez J, Volpi S, Huang B, Cheng J, Collins N, Reilley J, Handon R, Dobbs K, Huq L, Raman I, Zhu C, Li QZ, Li MO, Pittaluga S, Uzel G, Notarangelo LD, Belkaid Y, Germain RN, Schwartzberg PL.

Nat Immunol. 2018 Sep;19(9):986-1000. doi: 10.1038/s41590-018-0182-3. Epub 2018 Aug 20.

11.

Genetic Defects in Phosphoinositide 3-Kinase δ Influence CD8+ T Cell Survival, Differentiation, and Function.

Cannons JL, Preite S, Kapnick SM, Uzel G, Schwartzberg PL.

Front Immunol. 2018 Aug 2;9:1758. doi: 10.3389/fimmu.2018.01758. eCollection 2018. Review.

12.

Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension.

Etzion O, Takyar V, Novack V, Gharib AM, Canales R, Adebogun A, Matsumoto E, Eccleston JL, Kleiner DE, Rosenzweig SD, Gunay-Aygun M, Uzel G, Fuss I, Childs R, Holland SM, Levy EB, Liang TJ, Heller T, Koh C.

Hepatol Commun. 2018 Jul 16;2(8):919-928. doi: 10.1002/hep4.1198. eCollection 2018 Aug.

13.

Germline-activating mutations in PIK3CD compromise B cell development and function.

Avery DT, Kane A, Nguyen T, Lau A, Nguyen A, Lenthall H, Payne K, Shi W, Brigden H, French E, Bier J, Hermes JR, Zahra D, Sewell WA, Butt D, Elliott M, Boztug K, Meyts I, Choo S, Hsu P, Wong M, Berglund LJ, Gray P, O'Sullivan M, Cole T, Holland SM, Ma CS, Burkhart C, Corcoran LM, Phan TG, Brink R, Uzel G, Deenick EK, Tangye SG.

J Exp Med. 2018 Aug 6;215(8):2073-2095. doi: 10.1084/jem.20180010. Epub 2018 Jul 17.

14.

Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity.

Edwards ESJ, Bier J, Cole TS, Wong M, Hsu P, Berglund LJ, Boztug K, Lau A, Gostick E, Price DA, O'Sullivan M, Meyts I, Choo S, Gray P, Holland SM, Deenick EK, Uzel G, Tangye SG.

J Allergy Clin Immunol. 2019 Jan;143(1):276-291.e6. doi: 10.1016/j.jaci.2018.04.030. Epub 2018 May 22.

PMID:
29800648
15.

First-in-human topical microbiome transplantation with Roseomonas mucosa for atopic dermatitis.

Myles IA, Earland NJ, Anderson ED, Moore IN, Kieh MD, Williams KW, Saleem A, Fontecilla NM, Welch PA, Darnell DA, Barnhart LA, Sun AA, Uzel G, Datta SK.

JCI Insight. 2018 May 3;3(9). pii: 120608. doi: 10.1172/jci.insight.120608.

16.

STAT3 regulates cytotoxicity of human CD57+ CD4+ T cells in blood and lymphoid follicles.

Alshekaili J, Chand R, Lee CE, Corley S, Kwong K, Papa I, Fulcher DA, Randall KL, Leiding JW, Ma CS, Wilkins MR, Uzel G, Goodnow CC, Vinuesa CG, Tangye SG, Cook MC.

Sci Rep. 2018 Feb 23;8(1):3529. doi: 10.1038/s41598-018-21389-8.

17.

Liver disturbances in activated phosphoinositide 3-kinase δ syndrome.

Ben-Yakov G, Kapuria D, Marko J, Cho MH, Pittaluga S, Kleiner DE, Koh C, Holland S, Uzel G, Heller T.

J Allergy Clin Immunol Pract. 2018 Sep - Oct;6(5):1763-1765. doi: 10.1016/j.jaip.2018.01.005. Epub 2018 Feb 16. No abstract available.

PMID:
29378322
18.

Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment.

Ruiz-García R, Vargas-Hernández A, Chinn IK, Angelo LS, Cao TN, Coban-Akdemir Z, Jhangiani SN, Meng Q, Forbes LR, Muzny DM, Allende LM, Ehlayel MS, Gibbs RA, Lupski JR, Uzel G, Orange JS, Mace EM.

J Allergy Clin Immunol. 2018 Aug;142(2):605-617.e7. doi: 10.1016/j.jaci.2017.11.042. Epub 2018 Jan 10.

19.

Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease.

Zimmerman O, Rösler B, Zerbe CS, Rosen LB, Hsu AP, Uzel G, Freeman AF, Sampaio EP, Rosenzweig SD, Kuehn HS, Kim T, Brooks KM, Kumar P, Wang X, Netea MG, van de Veerdonk FL, Holland SM.

Open Forum Infect Dis. 2017 Sep 22;4(4):ofx202. doi: 10.1093/ofid/ofx202. eCollection 2017 Fall.

20.

Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation.

Moraes-Fontes MF, Hsu AP, Caramalho I, Martins C, Araújo AC, Lourenço F, Taulaigo AV, Lladó A, Holland SM, Uzel G.

Clin Case Rep. 2017 Nov 6;5(12):2066-2070. doi: 10.1002/ccr3.1257. eCollection 2017 Dec.

21.

Clinical Challenges: Identification of Patients With Novel Primary Immunodeficiency Syndromes.

Buchbinder D, Seppanen M, Rao VK, Uzel G, Nugent D.

J Pediatr Hematol Oncol. 2018 Jul;40(5):e319-e322. doi: 10.1097/MPH.0000000000001003.

22.

STAT5B: A Differential Regulator of the Life and Death of CD4+ Effector Memory T Cells.

Majri SS, Fritz JM, Villarino AV, Zheng L, Kanellopoulou C, Chaigne-Delalande B, Grönholm J, Niemela JE, Afzali B, Biancalana M, Pittaluga S, Sun A, Cohen JL, Holland SM, O'Shea JJ, Uzel G, Lenardo MJ.

J Immunol. 2018 Jan 1;200(1):110-118. doi: 10.4049/jimmunol.1701133. Epub 2017 Nov 29.

23.

The Changing Paradigm of Management of Liver Abscesses in Chronic Granulomatous Disease.

Straughan DM, McLoughlin KC, Mullinax JE, Marciano BE, Freeman AF, Anderson VL, Uzel G, Azoury SC, Sorber R, Quadri HS, Malech HL, DeRavin SS, Kamal N, Koh C, Zerbe CS, Kuhns DB, Gallin JI, Heller T, Holland SM, Rudloff U.

Clin Infect Dis. 2018 Apr 17;66(9):1427-1434. doi: 10.1093/cid/cix1012.

24.

Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.

Rao VK, Webster S, Dalm VASH, Šedivá A, van Hagen PM, Holland S, Rosenzweig SD, Christ AD, Sloth B, Cabanski M, Joshi AD, de Buck S, Doucet J, Guerini D, Kalis C, Pylvaenaeinen I, Soldermann N, Kashyap A, Uzel G, Lenardo MJ, Patel DD, Lucas CL, Burkhart C.

Blood. 2017 Nov 23;130(21):2307-2316. doi: 10.1182/blood-2017-08-801191. Epub 2017 Sep 29.

25.

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C.

Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5.

26.

Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4+ Lymphopenia and Secondary Germline or Acquired Defects.

Panackal AA, Rosen LB, Uzel G, Davis MJ, Hu G, Adeyemo A, Tekola-Ayele F, Lisco A, Diachok C, Kim JD, Shaw D, Sereti I, Stoddard J, Niemela J, Rosenzweig SD, Bennett JE, Williamson PR.

Open Forum Infect Dis. 2017 Jun 7;4(2):ofx082. doi: 10.1093/ofid/ofx082. eCollection 2017 Spring.

27.

X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability.

Marciano BE, Zerbe CS, Falcone EL, Ding L, DeRavin SS, Daub J, Kreuzburg S, Yockey L, Hunsberger S, Foruraghi L, Barnhart LA, Matharu K, Anderson V, Darnell DN, Frein C, Fink DL, Lau KP, Long Priel DA, Gallin JI, Malech HL, Uzel G, Freeman AF, Kuhns DB, Rosenzweig SD, Holland SM.

J Allergy Clin Immunol. 2018 Jan;141(1):365-371. doi: 10.1016/j.jaci.2017.04.035. Epub 2017 May 18.

PMID:
28528201
28.

Correction: Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria.

Schickel JN, Glauzy S, Ng YS, Chamberlain N, Massad C, Isnardi I, Katz N, Uzel G, Holland SM, Picard C, Puel A, Casanova JL, Meffre E.

J Exp Med. 2017 Jul 3;214(7):2161. doi: 10.1084/jem.2016020105152017c. Epub 2017 May 18. No abstract available.

29.

Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria.

Schickel JN, Glauzy S, Ng YS, Chamberlain N, Massad C, Isnardi I, Katz N, Uzel G, Holland SM, Picard C, Puel A, Casanova JL, Meffre E.

J Exp Med. 2017 Jul 3;214(7):1991-2003. doi: 10.1084/jem.20160201. Epub 2017 May 12. Erratum in: J Exp Med. 2017 May 18;:.

30.

Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1.

Moutsopoulos NM, Zerbe CS, Wild T, Dutzan N, Brenchley L, DiPasquale G, Uzel G, Axelrod KC, Lisco A, Notarangelo LD, Hajishengallis G, Notarangelo LD, Holland SM.

N Engl J Med. 2017 Mar 23;376(12):1141-1146. doi: 10.1056/NEJMoa1612197.

31.

IL-21 restricts T follicular regulatory T cell proliferation through Bcl-6 mediated inhibition of responsiveness to IL-2.

Jandl C, Liu SM, Cañete PF, Warren J, Hughes WE, Vogelzang A, Webster K, Craig ME, Uzel G, Dent A, Stepensky P, Keller B, Warnatz K, Sprent J, King C.

Nat Commun. 2017 Mar 17;8:14647. doi: 10.1038/ncomms14647.

32.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD.

J Clin Invest. 2016 Nov 1;126(11):4389. doi: 10.1172/JCI91162. Epub 2016 Nov 1. No abstract available.

33.

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency.

Kuhns DB, Fink DL, Choi U, Sweeney C, Lau K, Priel DL, Riva D, Mendez L, Uzel G, Freeman AF, Olivier KN, Anderson VL, Currens R, Mackley V, Kang A, Al-Adeli M, Mace E, Orange JS, Kang E, Lockett SJ, Chen, Steinbach PJ, Hsu AP, Zarember KA, Malech HL, Gallin JI, Holland SM.

Blood. 2016 Oct 27;128(17):2135-2143. Epub 2016 Aug 24.

34.

Outcome of patients with NEMO deficiency following allogeneic hematopoietic cell transplant.

Chandrakasan S, Marsh RA, Uzel G, Holland SM, Shah KN, Bleesing J.

J Allergy Clin Immunol. 2017 Mar;139(3):1040-1043.e2. doi: 10.1016/j.jaci.2016.08.039. Epub 2016 Oct 12. No abstract available.

PMID:
27744027
35.

Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.

Dulau Florea AE, Braylan RC, Schafernak KT, Williams KW, Daub J, Goyal RK, Puck JM, Rao VK, Pittaluga S, Holland SM, Uzel G, Calvo KR.

J Allergy Clin Immunol. 2017 Mar;139(3):1032-1035.e6. doi: 10.1016/j.jaci.2016.08.028. Epub 2016 Sep 30. No abstract available.

36.

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Ferre EM, Rose SR, Rosenzweig SD, Burbelo PD, Romito KR, Niemela JE, Rosen LB, Break TJ, Gu W, Hunsberger S, Browne SK, Hsu AP, Rampertaap S, Swamydas M, Collar AL, Kong HH, Lee CR, Chascsa D, Simcox T, Pham A, Bondici A, Natarajan M, Monsale J, Kleiner DE, Quezado M, Alevizos I, Moutsopoulos NM, Yockey L, Frein C, Soldatos A, Calvo KR, Adjemian J, Similuk MN, Lang DM, Stone KD, Uzel G, Kopp JB, Bishop RJ, Holland SM, Olivier KN, Fleisher TA, Heller T, Winer KK, Lionakis MS.

JCI Insight. 2016 Aug 18;1(13). pii: e88782.

37.

Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.

Tangye SG, Pillay B, Randall KL, Avery DT, Phan TG, Gray P, Ziegler JB, Smart JM, Peake J, Arkwright PD, Hambleton S, Orange J, Goodnow CC, Uzel G, Casanova JL, Lugo Reyes SO, Freeman AF, Su HC, Ma CS.

J Allergy Clin Immunol. 2017 Mar;139(3):933-949. doi: 10.1016/j.jaci.2016.07.016. Epub 2016 Aug 20.

PMID:
27554822
38.

CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.

Lo B, Fritz JM, Su HC, Uzel G, Jordan MB, Lenardo MJ.

Blood. 2016 Aug 25;128(8):1037-42. doi: 10.1182/blood-2016-04-712612. Epub 2016 Jul 14. Review.

39.

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

Ma CS, Wong N, Rao G, Nguyen A, Avery DT, Payne K, Torpy J, O'Young P, Deenick E, Bustamante J, Puel A, Okada S, Kobayashi M, Martinez-Barricarte R, Elliott M, Sebnem Kilic S, El Baghdadi J, Minegishi Y, Bousfiha A, Robertson N, Hambleton S, Arkwright PD, French M, Blincoe AK, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Fulcher DA, Cook MC, Stepensky P, Boztug K, Beier R, Ikincioğullari A, Ziegler JB, Gray P, Picard C, Boisson-Dupuis S, Phan TG, Grimbacher B, Warnatz K, Holland SM, Uzel G, Casanova JL, Tangye SG.

J Exp Med. 2016 Jul 25;213(8):1589-608. doi: 10.1084/jem.20151467. Epub 2016 Jul 11.

40.

Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies.

Lovell JP, Foruraghi L, Freeman AF, Uzel G, Zerbe CS, Su H, Hsu AP, Holland SM.

J Allergy Clin Immunol. 2016 Sep;138(3):903-905. doi: 10.1016/j.jaci.2016.02.040. Epub 2016 Apr 24. No abstract available.

41.

Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.

Zerbe CS, Marciano BE, Katial RK, Santos CB, Adamo N, Hsu AP, Hanks ME, Darnell DN, Quezado MM, Frein C, Barnhart LA, Anderson VL, Uzel G, Freeman AF, Lisco A, Nath A, Major EO, Sampaio EP, Holland SM.

Clin Infect Dis. 2016 Apr 15;62(8):986-94. doi: 10.1093/cid/civ1220. Epub 2016 Jan 6. Review.

42.

TOR-dependent post-transcriptional regulation of autophagy.

Hu G, McQuiston T, Bernard A, Park YD, Qiu J, Vural A, Zhang N, Waterman SR, Blewett NH, Myers TG, Maraia RJ, Kehrl JH, Uzel G, Klionsky DJ, Williamson PR.

Autophagy. 2015;11(12):2390-2. doi: 10.1080/15548627.2015.1091142.

43.

Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy.

Khangura SK, Kamal N, Ho N, Quezado M, Zhao X, Marciano B, Simpson J, Zerbe C, Uzel G, Yao MD, DeRavin SS, Hadigan C, Kuhns DB, Gallin JI, Malech HL, Holland SM, Heller T.

Clin Gastroenterol Hepatol. 2016 Mar;14(3):395-402.e5. doi: 10.1016/j.cgh.2015.10.030. Epub 2015 Nov 9.

44.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD.

J Clin Invest. 2015 Nov 2;125(11):4135-48. doi: 10.1172/JCI80477. Epub 2015 Oct 12. Erratum in: J Clin Invest. 2016 Nov 1;126(11):4389.

45.

Incidence and risk factors of bleeding-related adverse events in patients with chronic lymphocytic leukemia treated with ibrutinib.

Lipsky AH, Farooqui MZ, Tian X, Martyr S, Cullinane AM, Nghiem K, Sun C, Valdez J, Niemann CU, Herman SE, Saba N, Soto S, Marti G, Uzel G, Holland SM, Lozier JN, Wiestner A.

Haematologica. 2015 Dec;100(12):1571-8. doi: 10.3324/haematol.2015.126672. Epub 2015 Oct 1.

46.

Tor-dependent post-transcriptional regulation of autophagy: Implications for cancer therapeutics.

Hu G, McQuiston T, Bernard A, Park YD, Qiu J, Vural A, Zhang N, Waterman SR, Blewett NH, Myers TG, Kehrl JH, Uzel G, Klionsky DJ, Williamson PR.

Mol Cell Oncol. 2015 Sep 16;3(5):e1078923. eCollection 2016.

47.

Pathologic Findings in NEMO Deficiency: A Surgical and Autopsy Survey.

Huppmann AR, Leiding JW, Hsu AP, Raffeld M, Uzel G, Pittaluga S, Holland SM.

Pediatr Dev Pathol. 2015 Sep-Oct;18(5):387-400. doi: 10.2350/15-05-1631-OA.1. Epub 2015 Jul 31.

PMID:
26230867
48.

The role of transcriptional 'futile cycles' in autophagy and microbial pathogenesis.

Hu G, McQuiston T, Bernard A, Park YD, Qiu J, Vural A, Zhang N, Waterman SR, Blewett NH, Myers TG, Kehrl JH, Uzel G, Klionsky DJ, Williamson PR.

Microb Cell. 2015 Jul 30;2(8):302-304. doi: 10.15698/mic2015.08.221.

49.

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.

Ma CS, Wong N, Rao G, Avery DT, Torpy J, Hambridge T, Bustamante J, Okada S, Stoddard JL, Deenick EK, Pelham SJ, Payne K, Boisson-Dupuis S, Puel A, Kobayashi M, Arkwright PD, Kilic SS, El Baghdadi J, Nonoyama S, Minegishi Y, Mahdaviani SA, Mansouri D, Bousfiha A, Blincoe AK, French MA, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Smart JM, Fulcher DA, Cook MC, Phan TG, Stepensky P, Boztug K, Kansu A, İkincioğullari A, Baumann U, Beier R, Roscioli T, Ziegler JB, Gray P, Picard C, Grimbacher B, Warnatz K, Holland SM, Casanova JL, Uzel G, Tangye SG.

J Allergy Clin Immunol. 2015 Oct;136(4):993-1006.e1. doi: 10.1016/j.jaci.2015.05.036. Epub 2015 Jul 7.

50.

A conserved mechanism of TOR-dependent RCK-mediated mRNA degradation regulates autophagy.

Hu G, McQuiston T, Bernard A, Park YD, Qiu J, Vural A, Zhang N, Waterman SR, Blewett NH, Myers TG, Maraia RJ, Kehrl JH, Uzel G, Klionsky DJ, Williamson PR.

Nat Cell Biol. 2015 Jul;17(7):930-942. doi: 10.1038/ncb3189. Epub 2015 Jun 22.

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