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Items: 1 to 20 of 74

1.

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.

Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Brigida I, Zara E, Scala S, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, Ciolfi A, Netter P, Carisey AF, Diehl M, Akbarzadeh M, Conti F, Merli P, Pastore A, Levi Mortera S, Camerini S, Farina L, Buchholzer M, Pannone L, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Basso-Ricci L, Chiriaco M, Dvorsky R, Putignani L, Carsetti R, Janning P, Stray-Pedersen A, Erichsen HC, Horne A, Bryceson YT, Torralba-Raga L, Ramme K, Rosti V, Bracaglia C, Messia V, Palma P, Finocchi A, Locatelli F, Chinn IK, Lupski JR, Mace EM, Cancrini C, Aiuti A, Ahmadian MR, Orange JS, De Benedetti F, Tartaglia M.

J Exp Med. 2019 Dec 2;216(12):2778-2799. doi: 10.1084/jem.20190147. Epub 2019 Oct 10.

PMID:
31601675
2.

Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function.

Vargas-Hernández A, Witalisz-Siepracka A, Prchal-Murphy M, Klein K, Mahapatra S, Al-Herz W, Mace EM, Carisey AF, Orange JS, Sexl V, Forbes LR.

J Allergy Clin Immunol. 2019 Oct 7. pii: S0091-6749(19)31252-7. doi: 10.1016/j.jaci.2019.09.016. [Epub ahead of print]

PMID:
31600547
3.

Publisher Correction: 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, Petronczki ÖY, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Pickl WF, 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 Oct 2;10(1):4555. doi: 10.1038/s41467-019-12454-5.

4.

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.

Burk CM, Coffey KE, Mace EM, Bostwick BL, Chinn IK, Coban-Akdemir ZH, Jhangiani SN, Lupski JR, Ortiz D, Barnum JL, Allen SW, Robertson LM, Orange JS, Chong HJ.

J Allergy Clin Immunol Pract. 2019 Sep 11. pii: S2213-2198(19)30765-2. doi: 10.1016/j.jaip.2019.08.040. [Epub ahead of print] No abstract available.

PMID:
31520839
5.

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.

Aird A, Lagos M, Vargas-Hernández A, Posey JE, Coban-Akdemir Z, Jhangiani S, Mace EM, Reyes A, King A, Cavagnaro F, Forbes LR, Chinn IK, Lupski JR, Orange JS, Poli MC.

Front Pediatr. 2019 Jul 30;7:303. doi: 10.3389/fped.2019.00303. eCollection 2019.

6.

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, Pickl WF, 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. Erratum in: Nat Commun. 2019 Oct 2;10(1):4555.

7.

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
8.

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
9.

Warts and DADA2: a Mere Coincidence?

Arts K, Bergerson JRE, Ombrello AK, Similuk M, Oler AJ, Agharahimi A, Mace EM, Hershfield M, Wouters C, De Somer L, Morren MA, Diego RP, Moens L, Freeman AF, Meyts I.

J Clin Immunol. 2018 Nov;38(8):836-843. doi: 10.1007/s10875-018-0565-0. Epub 2018 Nov 1. No abstract available.

PMID:
30386947
10.

CD56 Expression Marks Human Group 2 Innate Lymphoid Cell Divergence from a Shared NK Cell and Group 3 Innate Lymphoid Cell Developmental Pathway.

Chen L, Youssef Y, Robinson C, Ernst GF, Carson MY, Young KA, Scoville SD, Zhang X, Harris R, Sekhri P, Mansour AG, Chan WK, Nalin AP, Mao HC, Hughes T, Mace EM, Pan Y, Rustagi N, Chatterjee SS, Gunaratne PH, Behbehani GK, Mundy-Bosse BL, Caligiuri MA, Freud AG.

Immunity. 2018 Sep 18;49(3):464-476.e4. doi: 10.1016/j.immuni.2018.08.010. Epub 2018 Sep 4.

11.

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. 2019 Nov;115:64-75. doi: 10.1016/j.molimm.2018.07.015. Epub 2018 Jul 24.

PMID:
30054012
12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

Phosphoinositide-3-Kinase Signaling in Human Natural Killer Cells: New Insights from Primary Immunodeficiency.

Mace EM.

Front Immunol. 2018 Mar 7;9:445. doi: 10.3389/fimmu.2018.00445. eCollection 2018. Review.

18.

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.

19.

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.

20.

Glycolytic requirement for NK cell cytotoxicity and cytomegalovirus control.

Mah AY, Rashidi A, Keppel MP, Saucier N, Moore EK, Alinger JB, Tripathy SK, Agarwal SK, Jeng EK, Wong HC, Miller JS, Fehniger TA, Mace EM, French AR, Cooper MA.

JCI Insight. 2017 Dec 7;2(23). pii: 95128. doi: 10.1172/jci.insight.95128.

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