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Items: 32

1.

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.

2.

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
3.

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.

4.

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Frisk S, Taylan F, Blaszczyk I, Nennesmo I, Annerén G, Herm B, Stattin EL, Zachariadis V, Lindstrand A, Tesi B, Laurell T, Nordgren A.

Clin Genet. 2019 Aug;96(2):118-125. doi: 10.1111/cge.13543. Epub 2019 May 9.

PMID:
30919936
5.

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.

6.

Cell-free tumour DNA testing for early detection of cancer - a potential future tool.

Barbany G, Arthur C, Liedén A, Nordenskjöld M, Rosenquist R, Tesi B, Wallander K, Tham E.

J Intern Med. 2019 Aug;286(2):118-136. doi: 10.1111/joim.12897. Epub 2019 Apr 8. Review.

PMID:
30861222
7.

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.

8.

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
9.

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.

10.

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
11.

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
12.

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.

13.

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.

14.

A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct.

Ciraci S, Ozcan A, Ozdemir MM, Chiang SCC, Tesi B, Ozdemir AM, Karakukcu M, Patiroglu T, Acipayam C, Doganay S, Gumus H, Unal E.

J Pediatr Hematol Oncol. 2017 Aug;39(6):e321-e324. doi: 10.1097/MPH.0000000000000886.

PMID:
28692549
15.

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.

16.

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.

17.

Targeting SAMHD1 with the Vpx protein to improve cytarabine therapy for hematological malignancies.

Herold N, Rudd SG, Ljungblad L, Sanjiv K, Myrberg IH, Paulin CB, Heshmati Y, Hagenkort A, Kutzner J, Page BD, Calderón-Montaño JM, Loseva O, Jemth AS, Bulli L, Axelsson H, Tesi B, Valerie NC, Höglund A, Bladh J, Wiita E, Sundin M, Uhlin M, Rassidakis G, Heyman M, Tamm KP, Warpman-Berglund U, Walfridsson J, Lehmann S, Grandér D, Lundbäck T, Kogner P, Henter JI, Helleday T, Schaller T.

Nat Med. 2017 Feb;23(2):256-263. doi: 10.1038/nm.4265. Epub 2017 Jan 9.

PMID:
28067901
18.

PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.

Patiroglu T, Akar HH, Unal E, Chiang SC, Schlums H, Tesi B, Ozkars MY, Karakukcu M.

Genet Couns. 2016;27(1):67-76.

PMID:
27192893
19.

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
20.

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
21.

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.

22.

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
23.

A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication.

Balcı YI, Özgürler Akpınar F, Polat A, Kenar F, Tesi B, Greenwood T, Yalçın N, Koçyiğit A.

Turk J Haematol. 2015 Dec;32(4):355-8. doi: 10.4274/tjh.2014.0416. Epub 2015 Sep 28.

24.

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.

Tesi B, Chiang SC, El-Ghoneimy D, Hussein AA, Langenskiöld C, Wali R, Fadoo Z, Silva JP, Lecumberri R, Unal S, Nordenskjöld M, Bryceson YT, Henter JI, Meeths M.

Pediatr Blood Cancer. 2015 Dec;62(12):2094-100. doi: 10.1002/pbc.25646. Epub 2015 Jul 16.

PMID:
26184781
25.

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.

Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Groß-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S; Inborn Errors Working Party of the EBMT.

Haematologica. 2015 Jul;100(7):978-88. doi: 10.3324/haematol.2014.121608. Epub 2015 May 28.

26.

Cytomegalovirus infection drives adaptive epigenetic diversification of NK cells with altered signaling and effector function.

Schlums H, Cichocki F, Tesi B, Theorell J, Beziat V, Holmes TD, Han H, Chiang SC, Foley B, Mattsson K, Larsson S, Schaffer M, Malmberg KJ, Ljunggren HG, Miller JS, Bryceson YT.

Immunity. 2015 Mar 17;42(3):443-56. doi: 10.1016/j.immuni.2015.02.008.

27.

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.

Tesi B, Sieni E, Neves C, Romano F, Cetica V, Cordeiro AI, Chiang S, Schlums H, Galli L, Avenali S, Tondo A, Canessa C, Henter JI, Nordenskjöld M, Hsu AP, Holland SM, Neves JF, Azzari C, Bryceson YT.

J Allergy Clin Immunol. 2015 Jun;135(6):1638-41. doi: 10.1016/j.jaci.2014.11.030. Epub 2015 Jan 13. No abstract available.

PMID:
25592983
28.

An Indian boy with griscelli syndrome type 2: case report and review of literature.

Singh A, Garg A, Kapoor S, Khurana N, Entesarian M, Tesi B.

Indian J Dermatol. 2014 Jul;59(4):394-7. doi: 10.4103/0019-5154.135494.

29.

Immunomodulatory activity of commonly used drugs on Fc-receptor-mediated human natural killer cell activation.

Theorell J, Gustavsson AL, Tesi B, Sigmundsson K, Ljunggren HG, Lundbäck T, Bryceson YT.

Cancer Immunol Immunother. 2014 Jun;63(6):627-41. doi: 10.1007/s00262-014-1539-6. Epub 2014 Mar 30.

PMID:
24682538
30.

Pathophysiology and spectrum of diseases caused by defects in lymphocyte cytotoxicity.

Meeths M, Chiang SC, Löfstedt A, Müller ML, Tesi B, Henter JI, Bryceson YT.

Exp Cell Res. 2014 Jul 1;325(1):10-7. doi: 10.1016/j.yexcr.2014.03.014. Epub 2014 Mar 28. Review.

PMID:
24680986
31.

Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology.

Sundin M, Tesi B, Sund Böhme M, Bryceson YT, Pütsep K, Chiang SC, Thunberg S, Winiarski J, Wikström AC.

J Clin Immunol. 2014 May;34(4):469-77. doi: 10.1007/s10875-014-0011-x. Epub 2014 Mar 14.

PMID:
24627079
32.

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

Müller ML, Chiang SC, Meeths M, Tesi B, Entesarian M, Nilsson D, Wood SM, Nordenskjöld M, Henter JI, Naqvi A, Bryceson YT.

Front Immunol. 2014 Jan 14;4:515. doi: 10.3389/fimmu.2013.00515. eCollection 2014 Jan 14.

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