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Items: 1 to 50 of 280

1.

Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.

Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Yüce Petronczki Ö, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Loizou JI, Kain R, Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E, Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, Medgyesi D, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K.

Nat Commun. 2019 Jul 15;10(1):3106. doi: 10.1038/s41467-019-10812-x.

PMID:
31308374
2.

Tandem CAR T cells targeting HER2 and IL13Rα2 mitigate tumor antigen escape.

Hegde M, Mukherjee M, Grada Z, Pignata A, Landi D, Navai SA, Wakefield A, Fousek K, Bielamowicz K, Chow KK, Brawley VS, Byrd TT, Krebs S, Gottschalk S, Wels WS, Baker ML, Dotti G, Mamonkin M, Brenner MK, Orange JS, Ahmed N.

J Clin Invest. 2019 Jul 2;130. pii: 131246. doi: 10.1172/JCI131246. eCollection 2019 Jul 2. No abstract available.

3.

Severe influenza pneumonitis in children with inherited TLR3 deficiency.

Lim HK, Huang SXL, Chen J, Kerner G, Gilliaux O, Bastard P, Dobbs K, Hernandez N, Goudin N, Hasek ML, García Reino EJ, Lafaille FG, Lorenzo L, Luthra P, Kochetkov T, Bigio B, Boucherit S, Rozenberg F, Vedrinne C, Keller MD, Itan Y, García-Sastre A, Celard M, Orange JS, Ciancanelli MJ, Meyts I, Zhang Q, Abel L, Notarangelo LD, Snoeck HW, Casanova JL, Zhang SY.

J Exp Med. 2019 Jun 19. pii: jem.20181621. doi: 10.1084/jem.20181621. [Epub ahead of print]

PMID:
31217193
4.

A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome.

Chaimowitz NS, Branch J, Reyes A, Vargas-Hernández A, Orange JS, Forbes LR, Ehlayel M, Purayil SC, Al-Nesf MA, Vogel TP.

Front Pediatr. 2019 Apr 24;7:130. doi: 10.3389/fped.2019.00130. eCollection 2019.

5.

Immunodeficiency Disorders.

Chinn IK, Orange JS.

Pediatr Rev. 2019 May;40(5):229-242. doi: 10.1542/pir.2017-0308. No abstract available.

PMID:
31043442
6.

Calculation of a Primary Immunodeficiency "Risk Vital Sign" via Population-Wide Analysis of Claims Data to Aid in Clinical Decision Support.

Rider NL, Miao D, Dodds M, Modell V, Modell F, Quinn J, Schwarzwald H, Orange JS.

Front Pediatr. 2019 Mar 18;7:70. doi: 10.3389/fped.2019.00070. eCollection 2019.

7.

Expanding the Pipeline for Pediatric Physician-Scientists.

Dermody TS, Hirsch R, Hostetter MK, Orange JS, St Geme JW 3rd.

J Pediatr. 2019 Apr;207:3-7.e1. doi: 10.1016/j.jpeds.2019.01.025. No abstract available.

PMID:
30922503
8.

Retraction Note: A homing system targets therapeutic T cells to brain cancer.

Samaha H, Pignata A, Fousek K, Ren J, Lam FW, Stossi F, Dubrulle J, Salsman VS, Krishnan S, Hong SH, Baker ML, Shree A, Gad AZ, Shum T, Fukumura D, Byrd TT, Mukherjee M, Marrelli SP, Orange JS, Joseph SK, Sorensen PH, Taylor MD, Hegde M, Mamonkin M, Jain RK, El-Naggar S, Ahmed N.

Nature. 2019 Mar;567(7746):132. doi: 10.1038/s41586-019-0967-z.

9.

The Autoimmune Disorder Susceptibility Gene CLEC16A Restrains NK Cell Function in YTS NK Cell Line and Clec16a Knockout Mice.

Pandey R, Bakay M, Hain HS, Strenkowski B, Yermakova A, Kushner JA, Orange JS, Hakonarson H.

Front Immunol. 2019 Feb 1;10:68. doi: 10.3389/fimmu.2019.00068. eCollection 2019.

10.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

11.

Interaction between nectin-1 and the human natural killer cell receptor CD96.

Holmes VM, Maluquer de Motes C, Richards PT, Roldan J, Bhargava AK, Orange JS, Krummenacher C.

PLoS One. 2019 Feb 13;14(2):e0212443. doi: 10.1371/journal.pone.0212443. eCollection 2019.

12.

NK cells in treated HIV-infected children display altered phenotype and function.

Mahapatra S, Shearer WT, Minard CG, Mace E, Paul M, Orange JS.

J Allergy Clin Immunol. 2019 Jul;144(1):294-303.e13. doi: 10.1016/j.jaci.2018.11.052. Epub 2019 Feb 5.

PMID:
30735686
13.

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.

Staines Boone AT, Chinn IK, Alaez-Versón C, Yamazaki-Nakashimada MA, Carrillo-Sánchez K, García-Cruz MLH, Poli MC, González Serrano ME, Medina Torres EA, Muzquiz Zermeño D, Forbes LR, Espinosa-Rosales FJ, Espinosa-Padilla SE, Orange JS, Lugo Reyes SO.

Front Pediatr. 2019 Jan 21;6:426. doi: 10.3389/fped.2018.00426. eCollection 2018.

14.

Implementation of a Novel Curriculum and Fostering Professional Identity Formation of Pediatrician-Scientists.

Burns AM, Thammasitboon S, Ward MA, Kline MW, Raphael JL, Turner TL, Orange JS.

J Pediatr. 2019 Feb;205:5-7.e1. doi: 10.1016/j.jpeds.2018.11.031. No abstract available.

PMID:
30684987
15.

Myeloid malignancies with somatic GATA2 mutations can be associated with an immunodeficiency phenotype.

Alfayez M, Wang SA, Bannon SA, Kontoyiannis DP, Kornblau SM, Orange JS, Mace EM, DiNardo CD.

Leuk Lymphoma. 2019 Aug;60(8):2025-2033. doi: 10.1080/10428194.2018.1551535. Epub 2019 Jan 16.

PMID:
30648453
16.

Emerging insights into human health and NK cell biology from the study of NK cell deficiencies.

Mace EM, Orange JS.

Immunol Rev. 2019 Jan;287(1):202-225. doi: 10.1111/imr.12725. Review.

PMID:
30565241
17.

William T. Shearer MD, PhD in Memoriam.

Fleisher TA, Orange JS.

J Clin Immunol. 2018 Nov;38(8):833-835. doi: 10.1007/s10875-018-0571-2. No abstract available.

PMID:
30488147
18.

KIR2DL4-HLAG interaction at human NK cell-oligodendrocyte interfaces regulates IFN-γ-mediated effects.

Banerjee PP, Pang L, Soldan SS, Miah SM, Eisenberg A, Maru S, Waldman A, Smith EA, Rosenberg-Hasson Y, Hirschberg D, Smith A, Ablashi DV, Campbell KS, Orange JS.

Mol Immunol. 2018 Nov 24. pii: S0161-5890(18)30835-6. doi: 10.1016/j.molimm.2018.09.027. [Epub ahead of print]

PMID:
30482463
19.

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.

Hagl B, Spielberger BD, Thoene S, Bonnal S, Mertes C, Winter C, Nijman IJ, Verduin S, Eberherr AC, Puel A, Schindler D, Ruland J, Meitinger T, Gagneur J, Orange JS, van Gijn ME, Renner ED.

Sci Rep. 2018 Nov 13;8(1):16719. doi: 10.1038/s41598-018-34953-z.

20.

New primary immunodeficiency diseases: context and future.

Yu JE, Orange JS, Demirdag YY.

Curr Opin Pediatr. 2018 Dec;30(6):806-820. doi: 10.1097/MOP.0000000000000699.

PMID:
30300326
21.

CLEC16A regulates splenocyte and NK cell function in part through MEK signaling.

Pandey R, Bakay M, Hain HS, Strenkowski B, Elsaqa BZB, Roizen JD, Kushner JA, Orange JS, Hakonarson H.

PLoS One. 2018 Sep 18;13(9):e0203952. doi: 10.1371/journal.pone.0203952. eCollection 2018.

22.

A homing system targets therapeutic T cells to brain cancer.

Samaha H, Pignata A, Fousek K, Ren J, Lam FW, Stossi F, Dubrulle J, Salsman VS, Krishnan S, Hong SH, Baker ML, Shree A, Gad AZ, Shum T, Fukumura D, Byrd TT, Mukherjee M, Marrelli SP, Orange JS, Joseph SK, Sorensen PH, Taylor MD, Hegde M, Mamonkin M, Jain RK, El-Naggar S, Ahmed N.

Nature. 2018 Sep;561(7723):331-337. doi: 10.1038/s41586-018-0499-y. Epub 2018 Sep 5. Retraction in: Nature. 2019 Mar;567(7746):132.

23.

Improved diagnostic clarity in shrimp allergic non-dust-mite sensitized patients.

Tuano KTS, Anvari S, Hanson IC, Hajjar J, Seeborg F, Noroski LM, Guffey D, Kang G, Orange JS, Davis CM.

Allergy Asthma Proc. 2018 Sep 1;39(5):377-383. doi: 10.2500/aap.2018.39.4148.

24.

ABO-incompatible deceased donor pediatric liver transplantation: Novel titer-based management protocol and outcomes.

Mysore KR, Himes RW, Rana A, Teruya J, Desai MS, Srivaths PR, Zaruca K, Calvert A, Guffey D, Minard CG, Morita E, Hensch L, Losos M, Kostousov V, Hui SR, Orange JS, Goss JA, Nicholas SK.

Pediatr Transplant. 2018 Nov;22(7):e13263. doi: 10.1111/petr.13263. Epub 2018 Aug 2.

PMID:
30070010
25.

Genome-wide analyses and functional profiling of human NK cell lines.

Gunesch JT, Angelo LS, Mahapatra S, Deering RP, Kowalko JE, Sleiman P, Tobias JW, Monaco-Shawver L, Orange JS, Mace EM.

Mol Immunol. 2018 Jul 24. pii: S0161-5890(18)30556-X. doi: 10.1016/j.molimm.2018.07.015. [Epub ahead of print] Review.

PMID:
30054012
26.

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.

Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, Bayram Y, Chinn IK, Karaca E, Punetha J, Poli C; Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Shaw CA, Orange JS, Gibbs RA, Lappalainen T, Lupski JR, Carvalho CMB.

Am J Hum Genet. 2018 Aug 2;103(2):171-187. doi: 10.1016/j.ajhg.2018.06.009. Epub 2018 Jul 19.

27.

Comment on: Evidence of innate lymphoid cell redundancy in humans.

Orange JS, Mace EM, French AR, Yokoyama WM, Fehniger TA, Cooper MA.

Nat Immunol. 2018 Aug;19(8):788-789. doi: 10.1038/s41590-018-0164-5. No abstract available.

PMID:
30026477
28.

Questioning the accuracy of currently available pneumococcal antibody testing.

Hajjar J, Al-Kaabi A, Kutac C, Dunn J, Shearer WT, Orange JS.

J Allergy Clin Immunol. 2018 Oct;142(4):1358-1360. doi: 10.1016/j.jaci.2018.06.013. Epub 2018 Jun 21. No abstract available.

PMID:
29936105
29.

The International Alliance of Primary Immune Deficiency Societies.

Gennery AR, Abraham RS, Torgerson TR, Etzioni A, Cant AJ, Meyts I, Chipeta J, Bousfiha AA, Dieye TD, Condino-Neto A, Espinosa F, Besrodnik L, Lau YL, Singh S, Chan GCF, Orange JS; European Society for Immunodeficiencies; Clinical Immunology Society; African Society for Immunodeficiencies; Latin American Society for Immunodeficiencies; Asia Pacific Society for Immunodeficiencies.

J Clin Immunol. 2018 May;38(4):447-449. doi: 10.1007/s10875-018-0517-8. Epub 2018 Jun 5. No abstract available.

PMID:
29872941
30.

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B; Undiagnosed Diseases Network members, Zieba BA, Küry S, Krüger E, Lupski JR, Bostwick BL, Orange JS.

Am J Hum Genet. 2018 Jun 7;102(6):1126-1142. doi: 10.1016/j.ajhg.2018.04.010. Epub 2018 May 24.

31.

Discovering the Cause of Wiskott-Aldrich Syndrome and Laying the Foundation for Understanding Immune Cell Structuring.

Mace EM, Orange JS.

J Immunol. 2018 Jun 1;200(11):3667-3670. doi: 10.4049/jimmunol.1800518. No abstract available.

32.

Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients.

Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS.

J Clin Immunol. 2018 May;38(4):540-541. doi: 10.1007/s10875-018-0510-2.

PMID:
29781065
33.

Schistosomiasis Induces Persistent DNA Methylation and Tuberculosis-Specific Immune Changes.

DiNardo AR, Nishiguchi T, Mace EM, Rajapakshe K, Mtetwa G, Kay A, Maphalala G, Secor WE, Mejia R, Orange JS, Coarfa C, Bhalla KN, Graviss EA, Mandalakas AM, Makedonas G.

J Immunol. 2018 Jul 1;201(1):124-133. doi: 10.4049/jimmunol.1800101. Epub 2018 May 11.

34.
35.

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.

Konno H, Chinn IK, Hong D, Orange JS, Lupski JR, Mendoza A, Pedroza LA, Barber GN.

Cell Rep. 2018 Apr 24;23(4):1112-1123. doi: 10.1016/j.celrep.2018.03.115.

36.

Latent therapeutic demand model for the immunoglobulin replacement therapy of primary immune deficiency disorders in the USA.

Stonebraker JS, Hajjar J, Orange JS.

Vox Sang. 2018 Apr 20. doi: 10.1111/vox.12651. [Epub ahead of print]

PMID:
29675923
37.

Use of Genetic Testing for Primary Immunodeficiency Patients.

Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS.

J Clin Immunol. 2018 Apr;38(3):320-329. doi: 10.1007/s10875-018-0489-8. Epub 2018 Apr 19. Erratum in: J Clin Immunol. 2018 May 21;:.

PMID:
29675737
38.

The Role of AIRE in the Immunity Against Candida Albicans in a Model of Human Macrophages.

de Albuquerque JAT, Banerjee PP, Castoldi A, Ma R, Zurro NB, Ynoue LH, Arslanian C, Barbosa-Carvalho MUW, Correia-Deur JEM, Weiler FG, Dias-da-Silva MR, Lazaretti-Castro M, Pedroza LA, Câmara NOS, Mace E, Orange JS, Condino-Neto A.

Front Immunol. 2018 Mar 21;9:567. doi: 10.3389/fimmu.2018.00567. eCollection 2018.

39.

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, Goldman JR, Stray-Pedersen A, Pedroza LA, Poli MC, Aldave-Becerra JC, McGhee SA, Al-Herz W, Chamdin A, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Cao TN, Hong DN, Gibbs RA, Lupski JR, Orange JS, McClain KL, Allen CE.

Blood. 2018 Jul 5;132(1):89-100. doi: 10.1182/blood-2017-11-814244. Epub 2018 Apr 9.

40.

High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease.

Yanir AD, Hanson IC, Shearer WT, Noroski LM, Forbes LR, Seeborg FO, Nicholas S, Chinn I, Orange JS, Rider NL, Leung KS, Naik S, Carrum G, Sasa G, Hegde M, Omer BA, Ahmed N, Allen CE, Khaled Y, Wu MF, Liu H, Gottschalk SM, Heslop HE, Brenner MK, Krance RA, Martinez CA.

Biol Blood Marrow Transplant. 2018 Aug;24(8):1643-1650. doi: 10.1016/j.bbmt.2018.03.029. Epub 2018 Apr 6.

PMID:
29630926
41.

Single Degranulations in NK Cells Can Mediate Target Cell Killing.

Gwalani LA, Orange JS.

J Immunol. 2018 May 1;200(9):3231-3243. doi: 10.4049/jimmunol.1701500. Epub 2018 Mar 28.

42.

Corrigendum: Specific Antibody Deficiency: Controversies in Diagnosis and Management.

Perez E, Bonilla FA, Orange JS, Ballow M.

Front Immunol. 2018 Mar 15;9:450. doi: 10.3389/fimmu.2018.00450. eCollection 2018.

43.

The Value of Food Allergy Prevention in Clinical Practice in Pediatrics: Targeting Early Life.

Anagnostou K, Orange JS.

Children (Basel). 2018 Jan 23;5(2). pii: E14. doi: 10.3390/children5020014.

44.

Nanoscale Dynamism of Actin Enables Secretory Function in Cytolytic Cells.

Carisey AF, Mace EM, Saeed MB, Davis DM, Orange JS.

Curr Biol. 2018 Feb 19;28(4):489-502.e9. doi: 10.1016/j.cub.2017.12.044. Epub 2018 Feb 1.

45.

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.

PMID:
29330011
46.

Clinical and economic outcomes of a "high-touch" clinical management program for intravenous immunoglobulin therapy.

Zhu J, Kirkham HS, Ayer G, Chen CC, Wade RL, Karkare SU, Robson CH, Orange JS.

Clinicoecon Outcomes Res. 2017 Dec 19;10:1-12. doi: 10.2147/CEOR.S142239. eCollection 2018.

47.

Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

Vargas-Hernández A, Mace EM, Zimmerman O, Zerbe CS, Freeman AF, Rosenzweig S, Leiding JW, Torgerson T, Altman MC, Schussler E, Cunningham-Rundles C, Chinn IK, Carisey AF, Hanson IC, Rider NL, Holland SM, Orange JS, Forbes LR.

J Allergy Clin Immunol. 2018 Jun;141(6):2142-2155.e5. doi: 10.1016/j.jaci.2017.08.040. Epub 2017 Oct 27.

48.

Editorial: NK Cell Subsets in Health and Disease: New Developments.

Marcenaro E, Notarangelo LD, Orange JS, Vivier E.

Front Immunol. 2017 Oct 18;8:1363. doi: 10.3389/fimmu.2017.01363. eCollection 2017. No abstract available.

49.

Reversible Transgene Expression Reduces Fratricide and Permits 4-1BB Costimulation of CAR T Cells Directed to T-cell Malignancies.

Mamonkin M, Mukherjee M, Srinivasan M, Sharma S, Gomes-Silva D, Mo F, Krenciute G, Orange JS, Brenner MK.

Cancer Immunol Res. 2018 Jan;6(1):47-58. doi: 10.1158/2326-6066.CIR-17-0126. Epub 2017 Oct 27.

50.

c-MPL provides tumor-targeted T-cell receptor-transgenic T cells with costimulation and cytokine signals.

Nishimura CD, Brenner DA, Mukherjee M, Hirsch RA, Ott L, Wu MF, Liu H, Dakhova O, Orange JS, Brenner MK, Lin CY, Arber C.

Blood. 2017 Dec 21;130(25):2739-2749. doi: 10.1182/blood-2017-02-769463. Epub 2017 Oct 27.

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