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Items: 28

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.

2.

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.

3.

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.

4.

Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation.

Seidel MG, Böhm K, Dogu F, Worth A, Thrasher A, Florkin B, İkincioğulları A, Peters A, Bakhtiar S, Meeths M, Stepensky P, Meyts I, Sharapova SO, Gámez-Díaz L, Hammarström L, Ehl S, Grimbacher B, Gennery AR; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation.

J Allergy Clin Immunol. 2018 Feb;141(2):770-775.e1. doi: 10.1016/j.jaci.2017.04.023. Epub 2017 May 10. No abstract available.

PMID:
28502825
5.

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.

6.

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
7.

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.

8.

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
9.

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.

10.

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
11.

Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden.

Meeths M, Horne A, Sabel M, Bryceson YT, Henter JI.

Pediatr Blood Cancer. 2015 Feb;62(2):346-352. doi: 10.1002/pbc.25308. Epub 2014 Nov 8.

PMID:
25382070
12.

Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missense PRF1 mutation.

Hussein AA, Hamadah T, Qandeel M, Sughayer M, Amarin R, Mansour A, Chiang SC, Al-Zaben A, Meeths M, Bryceson YT.

Pediatr Blood Cancer. 2014 Dec;61(12):2313-5. doi: 10.1002/pbc.25166. Epub 2014 Aug 11.

PMID:
25110876
13.

Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies.

Borte S, Meeths M, Liebscher I, Krist K, Nordenskjöld M, Hammarström L, von Döbeln U, Henter JI, Bryceson YT.

J Allergy Clin Immunol. 2014 Jul;134(1):226-8. doi: 10.1016/j.jaci.2014.04.026. Epub 2014 May 29. No abstract available.

PMID:
24882743
14.

Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency.

Cichocki F, Schlums H, Li H, Stache V, Holmes T, Lenvik TR, Chiang SC, Miller JS, Meeths M, Anderson SK, Bryceson YT.

J Exp Med. 2014 Jun 2;211(6):1079-91. doi: 10.1084/jem.20131131. Epub 2014 May 19.

15.

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
16.

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.

17.

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.

Entesarian M, Chiang SC, Schlums H, Meeths M, Chan MY, Mya SN, Soh SY, Nordenskjöld M, Henter JI, Bryceson YT.

Br J Haematol. 2013 Aug;162(3):415-8. doi: 10.1111/bjh.12371. Epub 2013 May 14. No abstract available.

PMID:
23672263
18.

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production.

Chiang SC, Theorell J, Entesarian M, Meeths M, Mastafa M, Al-Herz W, Frisk P, Gilmour KC, Ifversen M, Langenskiöld C, Machaczka M, Naqvi A, Payne J, Perez-Martinez A, Sabel M, Unal E, Unal S, Winiarski J, Nordenskjöld M, Ljunggren HG, Henter JI, Bryceson YT.

Blood. 2013 Feb 21;121(8):1345-56. doi: 10.1182/blood-2012-07-442558. Epub 2013 Jan 2.

19.

Development of classical Hodgkin's lymphoma in an adult with biallelic STXBP2 mutations.

Machaczka M, Klimkowska M, Chiang SC, Meeths M, Müller ML, Gustafsson B, Henter JI, Bryceson YT.

Haematologica. 2013 May;98(5):760-4. doi: 10.3324/haematol.2012.073098. Epub 2012 Oct 25.

20.

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.

Meeths M, Chiang SC, Wood SM, Entesarian M, Schlums H, Bang B, Nordenskjöld E, Björklund C, Jakovljevic G, Jazbec J, Hasle H, Holmqvist BM, Rajic L, Pfeifer S, Rosthøj S, Sabel M, Salmi TT, Stokland T, Winiarski J, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI, Bryceson YT.

Blood. 2011 Nov 24;118(22):5783-93. doi: 10.1182/blood-2011-07-369090. Epub 2011 Sep 19.

21.

Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4).

Macartney CA, Weitzman S, Wood SM, Bansal D, Steele M, Meeths M, Abdelhaleem M, Bryceson YT.

Pediatr Blood Cancer. 2011 Apr;56(4):654-7. doi: 10.1002/pbc.22676. Epub 2010 Dec 27.

PMID:
21298754
22.

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

Sieni E, Cetica V, Santoro A, Beutel K, Mastrodicasa E, Meeths M, Ciambotti B, Brugnolo F, zur Stadt U, Pende D, Moretta L, Griffiths GM, Henter JI, Janka G, Aricò M.

J Med Genet. 2011 May;48(5):343-52. doi: 10.1136/jmg.2010.085456. Epub 2011 Jan 19.

23.

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.

Meeths M, Entesarian M, Al-Herz W, Chiang SC, Wood SM, Al-Ateeqi W, Almazan F, Boelens JJ, Hasle H, Ifversen M, Lund B, van den Berg JM, Gustafsson B, Hjelmqvist H, Nordenskjöld M, Bryceson YT, Henter JI.

Blood. 2010 Oct 14;116(15):2635-43. doi: 10.1182/blood-2010-05-282541. Epub 2010 Jun 17.

24.

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.

Meeths M, Bryceson YT, Rudd E, Zheng C, Wood SM, Ramme K, Beutel K, Hasle H, Heilmann C, Hultenby K, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI.

Pediatr Blood Cancer. 2010 Apr;54(4):563-72. doi: 10.1002/pbc.22357.

PMID:
19953648
25.

Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity.

Wood SM, Meeths M, Chiang SC, Bechensteen AG, Boelens JJ, Heilmann C, Horiuchi H, Rosthøj S, Rutynowska O, Winiarski J, Stow JL, Nordenskjöld M, Henter JI, Ljunggren HG, Bryceson YT.

Blood. 2009 Nov 5;114(19):4117-27. doi: 10.1182/blood-2009-06-225359. Epub 2009 Aug 24.

26.

Multiple inherited sequence variations in two disease-causing genes in familial haemophagocytic lymphohistiocytosis.

Rudd E, Meeths M, Uysal Z, Nordenskjöld M, Henter JI, Fadeel B.

Br J Haematol. 2009 Jul;146(2):218-20. doi: 10.1111/j.1365-2141.2009.07729.x. Epub 2009 May 19. No abstract available.

PMID:
19466974
27.

Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome.

Chan CB, Abe M, Hashimoto N, Hao C, Williams IR, Liu X, Nakao S, Yamamoto A, Zheng C, Henter JI, Meeths M, Nordenskjold M, Li SY, Hara-Nishimura I, Asano M, Ye K.

Proc Natl Acad Sci U S A. 2009 Jan 13;106(2):468-73. doi: 10.1073/pnas.0809824105. Epub 2008 Dec 23. Erratum in: Proc Natl Acad Sci U S A. 2009 Apr 7;106(14):6023. Zheng, Chengyun [added]; Henter, Jan-Inge [added]; Meeths, Marie [added]; Nordenskjold, Magnus [added].

28.

Treatment of the X-linked lymphoproliferative, Griscelli and Chédiak-Higashi syndromes by HLH directed therapy.

Trottestam H, Beutel K, Meeths M, Carlsen N, Heilmann C, Pasić S, Webb D, Hasle H, Henter JI.

Pediatr Blood Cancer. 2009 Feb;52(2):268-72. doi: 10.1002/pbc.21790.

PMID:
18937330

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