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Items: 1 to 50 of 123

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 Oct 10. pii: jem.20190147. doi: 10.1084/jem.20190147. [Epub ahead of print]

PMID:
31601675
2.

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.

3.

Elevated ferritin and soluble CD25 in critically ill are associated with parameters of (hyper)inflammation and lymphocyte cytotoxicity.

von Bahr Greenwood T, Palmkvist-Kaijser K, Chiang SC, Tesi B, Bryceson YT, Hjelmqvist H, Henter JI.

Minerva Anestesiol. 2019 Sep 3. doi: 10.23736/S0375-9393.19.13534-1. [Epub ahead of print]

PMID:
31486618
4.

Cytotoxic Granule Exocytosis From Human Cytotoxic T Lymphocytes Is Mediated by VAMP7.

Chitirala P, Ravichandran K, Galgano D, Sleiman M, Krause E, Bryceson YT, Rettig J.

Front Immunol. 2019 Aug 7;10:1855. doi: 10.3389/fimmu.2019.01855. eCollection 2019.

5.

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.

6.

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.

Keskitalo S, Haapaniemi EM, Glumoff V, Liu X, Lehtinen V, Fogarty C, Rajala H, Chiang SC, Mustjoki S, Kovanen P, Lohi J, Bryceson YT, Seppänen M, Kere J, Heiskanen K, Varjosalo M.

NPJ Genom Med. 2019 Jun 27;4:14. doi: 10.1038/s41525-019-0088-5. eCollection 2019.

7.

IL2RB maintains immune harmony.

Campbell TM, Bryceson YT.

J Exp Med. 2019 Jun 3;216(6):1231-1233. doi: 10.1084/jem.20190546. Epub 2019 May 8.

PMID:
31068380
8.

Adaptive NK cells in people exposed to Plasmodium falciparum correlate with protection from malaria.

Hart GT, Tran TM, Theorell J, Schlums H, Arora G, Rajagopalan S, Sangala ADJ, Welsh KJ, Traore B, Pierce SK, Crompton PD, Bryceson YT, Long EO.

J Exp Med. 2019 Jun 3;216(6):1280-1290. doi: 10.1084/jem.20181681. Epub 2019 Apr 12.

PMID:
30979790
9.

Corrigendum: Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients.

Theorell J, Bileviciute-Ljungar I, Tesi B, Schlums H, Johnsgaard MS, Asadi-Azarbaijani B, Strand EB, Bryceson YT.

Front Immunol. 2019 Mar 11;10:350. doi: 10.3389/fimmu.2019.00350. eCollection 2019.

10.

Determination of essential phenotypic elements of clusters in high-dimensional entities-DEPECHE.

Theorell A, Bryceson YT, Theorell J.

PLoS One. 2019 Mar 7;14(3):e0203247. doi: 10.1371/journal.pone.0203247. eCollection 2019.

11.

Haploinsufficiency of UNC13D increases the risk of lymphoma.

Löfstedt A, Ahlm C, Tesi B, Bergdahl IA, Nordenskjöld M, Bryceson YT, Henter JI, Meeths M.

Cancer. 2019 Jun 1;125(11):1848-1854. doi: 10.1002/cncr.32011. Epub 2019 Feb 13.

12.

Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.

Al-Herz W, Chou J, Delmonte OM, Massaad MJ, Bainter W, Castagnoli R, Klein C, Bryceson YT, Geha RS, Notarangelo LD.

Front Immunol. 2019 Jan 15;9:3146. doi: 10.3389/fimmu.2018.03146. eCollection 2018.

13.

Clonal expansion and compartmentalized maintenance of rhesus macaque NK cell subsets.

Wu C, Espinoza DA, Koelle SJ, Yang D, Truitt L, Schlums H, Lafont BA, Davidson-Moncada JK, Lu R, Kaur A, Hammer Q, Li B, Panch S, Allan DA, Donahue RE, Childs RW, Romagnani C, Bryceson YT, Dunbar CE.

Sci Immunol. 2018 Nov 2;3(29). pii: eaat9781. doi: 10.1126/sciimmunol.aat9781.

PMID:
30389798
14.

Serum cytokine measurements and biological therapy of psoriasis - Prospects for personalized treatment?

Solberg SM, Sandvik LF, Eidsheim M, Jonsson R, Bryceson YT, Appel S.

Scand J Immunol. 2018 Dec;88(6):e12725. doi: 10.1111/sji.12725. Epub 2018 Nov 4.

PMID:
30307657
15.

NK cell receptor NKG2D sets activation threshold for the NCR1 receptor early in NK cell development.

Jelenčić V, Šestan M, Kavazović I, Lenartić M, Marinović S, Holmes TD, Prchal-Murphy M, Lisnić B, Sexl V, Bryceson YT, Wensveen FM, Polić B.

Nat Immunol. 2018 Oct;19(10):1083-1092. doi: 10.1038/s41590-018-0209-9. Epub 2018 Sep 17.

16.

Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation.

Neves JF, Raga LT, Chiang SCC, Tesi B, Vieira JP, Cordeiro AI, Borrego L, Bryceson YT.

Pediatr Infect Dis J. 2019 Feb;38(2):e29-e31. doi: 10.1097/INF.0000000000002154.

PMID:
30138256
17.

Natural killer cells in inflammation and autoimmunity.

Zitti B, Bryceson YT.

Cytokine Growth Factor Rev. 2018 Aug;42:37-46. doi: 10.1016/j.cytogfr.2018.08.001. Epub 2018 Aug 10. Review.

PMID:
30122459
18.

ARID5B regulates metabolic programming in human adaptive NK cells.

Cichocki F, Wu CY, Zhang B, Felices M, Tesi B, Tuininga K, Dougherty P, Taras E, Hinderlie P, Blazar BR, Bryceson YT, Miller JS.

J Exp Med. 2018 Sep 3;215(9):2379-2395. doi: 10.1084/jem.20172168. Epub 2018 Jul 30.

19.

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.

Järviaho T, Zachariadis V, Tesi B, Chiang S, Bryceson YT, Möttönen M, Niinimäki R, Bang B, Rahikkala E, Taylan F, Uusimaa J, Harila-Saari A, Nordgren A.

Br J Haematol. 2019 Apr;185(2):354-357. doi: 10.1111/bjh.15494. Epub 2018 Jul 13. No abstract available.

PMID:
30004112
20.

HLH: genomics illuminates pathophysiological diversity.

Tesi B, Bryceson YT.

Blood. 2018 Jul 5;132(1):5-7. doi: 10.1182/blood-2018-05-845818. No abstract available.

PMID:
29976779
21.

Screening for Wiskott-Aldrich syndrome by flow cytometry.

Chiang SCC, Vergamini SM, Husami A, Neumeier L, Quinn K, Ellerhorst T, Sheppard L, Gifford C, Buchbinder D, Joshi A, Ifversen M, Kleiner GI, Bussel JB, Chandrakasan S, Pesek RD, Pozos TC, Rose MJ, Scurlock AM, Zhang K, Bryceson YT, Bleesing J, Marsh RA.

J Allergy Clin Immunol. 2018 Jul;142(1):333-335.e8. doi: 10.1016/j.jaci.2018.04.017. Epub 2018 May 3. No abstract available.

PMID:
29729304
22.

A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

Tesi B, Rascon J, Chiang SCC, Burnyte B, Löfstedt A, Fasth A, Heizmann M, Juozapaite S, Kiudeliene R, Kvedaraite E, Miseviciene V, Muleviciene A, Müller ML, Nordenskjöld M, Matuzeviciene R, Samaitiene R, Speckmann C, Stankeviciene S, Zekas V, Voss M, Ehl S, Vaiciene-Magistris N, Henter JI, Meeths M, Bryceson YT.

J Allergy Clin Immunol. 2018 Jul;142(1):317-321.e8. doi: 10.1016/j.jaci.2018.02.031. Epub 2018 Mar 6. No abstract available.

23.

The STAT4 SLE risk allele rs7574865[T] is associated with increased IL-12-induced IFN-γ production in T cells from patients with SLE.

Hagberg N, Joelsson M, Leonard D, Reid S, Eloranta ML, Mo J, Nilsson MK, Syvänen AC, Bryceson YT, Rönnblom L.

Ann Rheum Dis. 2018 Jul;77(7):1070-1077. doi: 10.1136/annrheumdis-2017-212794. Epub 2018 Feb 23.

24.

First Report of an SH2D1A Mutation Associated with X-Linked Lymphoproliferative Disease in Turkey

Kesici S, Yılmaz Keskin E, Chiang SC, Kasapkara ÇS, Sekine T, Akçaboy M, Fettah A, Bryceson YT.

Turk J Haematol. 2018 Aug 3;35(3):200-202. doi: 10.4274/tjh.2017.0445. Epub 2018 Feb 2. No abstract available.

25.

Phosphorylation of intracellular signalling molecules in peripheral blood cells from patients with psoriasis on originator or biosimilar infliximab.

Aarebrot AK, Solberg SM, Davies R, Bader LI, Holmes TD, Gavasso S, Bryceson YT, Jonsson R, Sandvik LF, Appel S.

Br J Dermatol. 2018 Aug;179(2):371-380. doi: 10.1111/bjd.16269. Epub 2018 May 30.

PMID:
29274242
26.

Single-cell dissection of monosomy 7 syndromes.

Gutierrez-Perez I, Bryceson YT.

Blood. 2017 Dec 21;130(25):2693-2695. doi: 10.1182/blood-2017-11-811935. No abstract available.

PMID:
29269530
27.

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW.

Haematologica. 2018 Mar;103(3):427-437. doi: 10.3324/haematol.2017.180778. Epub 2017 Dec 7.

28.

Natural killer cell-mediated immunosurveillance of human cancer.

Malmberg KJ, Carlsten M, Björklund A, Sohlberg E, Bryceson YT, Ljunggren HG.

Semin Immunol. 2017 Jun;31:20-29. doi: 10.1016/j.smim.2017.08.002. Epub 2017 Sep 6. Review.

PMID:
28888619
29.

GSK3 Inhibition Drives Maturation of NK Cells and Enhances Their Antitumor Activity.

Cichocki F, Valamehr B, Bjordahl R, Zhang B, Rezner B, Rogers P, Gaidarova S, Moreno S, Tuininga K, Dougherty P, McCullar V, Howard P, Sarhan D, Taras E, Schlums H, Abbot S, Shoemaker D, Bryceson YT, Blazar BR, Wolchko S, Cooley S, Miller JS.

Cancer Res. 2017 Oct 15;77(20):5664-5675. doi: 10.1158/0008-5472.CAN-17-0799. Epub 2017 Aug 8.

30.

Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients.

Theorell J, Bileviciute-Ljungar I, Tesi B, Schlums H, Johnsgaard MS, Asadi-Azarbaijani B, Bolle Strand E, Bryceson YT.

Front Immunol. 2017 Jun 26;8:723. doi: 10.3389/fimmu.2017.00723. eCollection 2017. Erratum in: Front Immunol. 2019 Mar 11;10:350.

31.

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.

Chiang SCC, Wood SM, Tesi B, Akar HH, Al-Herz W, Ammann S, Belen FB, Caliskan U, Kaya Z, Lehmberg K, Patiroglu T, Tokgoz H, Ünüvar A, Introne WJ, Henter JI, Nordenskjöld M, Ljunggren HG, Meeths M, Ehl S, Krzewski K, Bryceson YT.

Front Immunol. 2017 Apr 18;8:426. doi: 10.3389/fimmu.2017.00426. eCollection 2017.

32.

CD49a Expression Defines Tissue-Resident CD8+ T Cells Poised for Cytotoxic Function in Human Skin.

Cheuk S, Schlums H, Gallais Sérézal I, Martini E, Chiang SC, Marquardt N, Gibbs A, Detlofsson E, Introini A, Forkel M, Höög C, Tjernlund A, Michaëlsson J, Folkersen L, Mjösberg J, Blomqvist L, Ehrström M, Ståhle M, Bryceson YT, Eidsmo L.

Immunity. 2017 Feb 21;46(2):287-300. doi: 10.1016/j.immuni.2017.01.009. Epub 2017 Feb 14.

33.

Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells.

Schlums H, Jung M, Han H, Theorell J, Bigley V, Chiang SC, Allan DS, Davidson-Moncada JK, Dickinson RE, Holmes TD, Hsu AP, Townsley D, Winkler T, Wang W, Aukrust P, Nordøy I, Calvo KR, Holland SM, Collin M, Dunbar CE, Bryceson YT.

Blood. 2017 Apr 6;129(14):1927-1939. doi: 10.1182/blood-2016-08-734236. Epub 2017 Feb 16.

34.

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.

Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT.

Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15.

35.

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.

Skauli N, Wallace S, Chiang SC, Barøy T, Holmgren A, Stray-Pedersen A, Bryceson YT, Strømme P, Frengen E, Misceo D.

Genes (Basel). 2016 Nov 29;7(12). pii: E108.

36.

Acquired somatic mutations in PNH reveal long-term maintenance of adaptive NK cells independent of HSPCs.

Corat MA, Schlums H, Wu C, Theorell J, Espinoza DA, Sellers SE, Townsley DM, Young NS, Bryceson YT, Dunbar CE, Winkler T.

Blood. 2017 Apr 6;129(14):1940-1946. doi: 10.1182/blood-2016-08-734285. Epub 2016 Nov 30.

37.

Increased proportion of mature NK cells is associated with successful imatinib discontinuation in chronic myeloid leukemia.

Ilander M, Olsson-Strömberg U, Schlums H, Guilhot J, Brück O, Lähteenmäki H, Kasanen T, Koskenvesa P, Söderlund S, Höglund M, Markevärn B, Själander A, Lotfi K, Dreimane A, Lübking A, Holm E, Björeman M, Lehmann S, Stenke L, Ohm L, Gedde-Dahl T, Majeed W, Ehrencrona H, Koskela S, Saussele S, Mahon FX, Porkka K, Hjorth-Hansen H, Bryceson YT, Richter J, Mustjoki S.

Leukemia. 2017 May;31(5):1108-1116. doi: 10.1038/leu.2016.360. Epub 2016 Nov 28.

38.

Site-Specific Photolabeling of the IgG Fab Fragment Using a Small Protein G Derived Domain.

Kanje S, von Witting E, Chiang SC, Bryceson YT, Hober S.

Bioconjug Chem. 2016 Sep 21;27(9):2095-102. doi: 10.1021/acs.bioconjchem.6b00346. Epub 2016 Aug 15.

PMID:
27491005
39.

Reduced potency of cytotoxic T lymphocytes from patients with high-risk myelodysplastic syndromes.

Sand K, Theorell J, Bruserud Ø, Bryceson YT, Kittang AO.

Cancer Immunol Immunother. 2016 Sep;65(9):1135-47. doi: 10.1007/s00262-016-1865-y. Epub 2016 Aug 1.

PMID:
27481108
40.

Natural killer cell memory in context.

Holmes TD, Bryceson YT.

Semin Immunol. 2016 Aug;28(4):368-76. doi: 10.1016/j.smim.2016.05.008. Epub 2016 Jun 25. Review.

PMID:
27354353
41.

Analysis of Intracellular Ca(2+) Mobilization in Human NK Cell Subsets by Flow Cytometry.

Theorell J, Bryceson YT.

Methods Mol Biol. 2016;1441:117-30. doi: 10.1007/978-1-4939-3684-7_10.

PMID:
27177661
42.

Epigenetic Regulation of Adaptive NK Cell Diversification.

Tesi B, Schlums H, Cichocki F, Bryceson YT.

Trends Immunol. 2016 Jul;37(7):451-461. doi: 10.1016/j.it.2016.04.006. Epub 2016 May 6. Review.

PMID:
27160662
43.

Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation.

Tesi B, Priftakis P, Lindgren F, Chiang SC, Kartalis N, Löfstedt A, Lörinc E, Henter JI, Winiarski J, Bryceson YT, Meeths M.

J Clin Immunol. 2016 Jul;36(5):480-9. doi: 10.1007/s10875-016-0289-y. Epub 2016 May 4.

PMID:
27146671
44.

HLH susceptibility: genetic lesions add up.

Meeths M, Bryceson YT.

Blood. 2016 Apr 28;127(17):2051-2. doi: 10.1182/blood-2016-03-700609. No abstract available.

PMID:
27127299
45.

Cancer risk in relatives of patients with a primary disorder of lymphocyte cytotoxicity: a retrospective cohort study.

Löfstedt A, Chiang SC, Onelöv E, Bryceson YT, Meeths M, Henter JI.

Lancet Haematol. 2015 Dec;2(12):e536-42. doi: 10.1016/S2352-3026(15)00223-9. Epub 2015 Dec 3.

PMID:
26686408
46.

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Tesi B, Lagerstedt-Robinson K, Chiang SC, Ben Bdira E, Abboud M, Belen B, Devecioglu O, Fadoo Z, Yeoh AE, Erichsen HC, Möttönen M, Akar HH, Hästbacka J, Kaya Z, Nunes S, Patiroglu T, Sabel M, Saribeyoglu ET, Tvedt TH, Unal E, Unal S, Unuvar A, Meeths M, Henter JI, Nordenskjöld M, Bryceson YT.

Genome Med. 2015 Dec 18;7:130. doi: 10.1186/s13073-015-0244-1.

47.

Natural killer cell biology illuminated by primary immunodeficiency syndromes in humans.

Voss M, Bryceson YT.

Clin Immunol. 2017 Apr;177:29-42. doi: 10.1016/j.clim.2015.11.004. Epub 2015 Dec 1. Review.

PMID:
26592356
48.

Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.

Gil-Krzewska A, Wood SM, Murakami Y, Nguyen V, Chiang SCC, Cullinane AR, Peruzzi G, Gahl WA, Coligan JE, Introne WJ, Bryceson YT, Krzewski K.

J Allergy Clin Immunol. 2016 Apr;137(4):1165-1177. doi: 10.1016/j.jaci.2015.08.039. Epub 2015 Oct 21.

49.

Diversification and Functional Specialization of Human NK Cell Subsets.

Cichicki F, Schlums H, Theorell J, Tesi B, Miller JS, Ljunggren HG, Bryceson YT.

Curr Top Microbiol Immunol. 2016;395:63-94. Review.

PMID:
26472216
50.

CD56dimCD57+NKG2C+ NK cell expansion is associated with reduced leukemia relapse after reduced intensity HCT.

Cichocki F, Cooley S, Davis Z, DeFor TE, Schlums H, Zhang B, Brunstein CG, Blazar BR, Wagner J, Diamond DJ, Verneris MR, Bryceson YT, Weisdorf DJ, Miller JS.

Leukemia. 2016 Feb;30(2):456-63. doi: 10.1038/leu.2015.260. Epub 2015 Sep 29.

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