Marie Meeths

发表

HLH susceptibility: genetic lesions add up.

Y. Bryceson, Marie Meeths, 2016, Blood.

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

T. Tvedt, A. Yeoh, M. Nordenskjöld, 2015, Genome Medicine.

Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome

K. Ye, I. Williams, Xia Liu, 2009, Proceedings of the National Academy of Sciences.

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

W. Al-Herz, S. Ehl, H. Ljunggren, 2017, Front. Immunol..

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

H. Ljunggren, J. Stow, M. Nordenskjöld, 2009, Blood.

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

S. Anderson, Jeffrey S. Miller, Y. Bryceson, 2014, The Journal of experimental medicine.

Genetics and pathophysiology of haemophagocytic lymphohistiocytosis

Y. Bryceson, Marie Meeths, 2021, Acta paediatrica.

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

B. Gustafsson, J. Henter, Y. Bryceson, 2013, Haematologica.

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

D. El-Ghoneimy, M. Nordenskjöld, S. Unal, 2015, Pediatric blood & cancer.

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

W. Al-Herz, M. Nordenskjöld, H. Hasle, 2010, Blood.

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

M. Nordenskjöld, J. Henter, Y. Bryceson, 2013, British journal of haematology.

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

D. Nilsson, M. Nordenskjöld, J. Henter, 2013, Front. Immunol..

Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity.

K. Korn, S. Choo, S. Ehl, 2021, The Journal of allergy and clinical immunology.

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

H. Hasle, J. Henter, N. Carlsen, 2009, Pediatric blood & cancer.

Diagnostic challenges for a novel SH2D1A mutation associated with X‐linked lymphoproliferative disease

M. Nordenskjöld, M. Abdelhaleem, A. Horne, 2020, Pediatric blood & cancer.

Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden

M. Sabel, A. Horne, J. Henter, 2015, Pediatric blood & cancer.

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

D. Bansal, M. Abdelhaleem, Y. Bryceson, 2011, Pediatric blood & cancer.

Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis type 3

V. Cetica, L. Moretta, M. Aricò, 2011, Journal of Medical Genetics.

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

J. Orange, E. Meffre, W. Pickl, 2019, Nature Communications.

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders

C. Cancrini, A. Nordgren, M. Irving, 2021, American journal of medical genetics. Part A.

CD8+ T Cell Biology in Cytokine Storm Syndromes

T. Sekine, G. P. Casoni, Y. Bryceson, 2019, Cytokine Storm Syndrome.

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

J. Henter, Y. Bryceson, B. Tesi, 2014, Experimental cell research.

Genetic, cellular and clinical studies of hemophagocytic lymphohistiocytosis

Marie Meeths, 2012 .

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

H. Ljunggren, B. Fadeel, T. Salmi, 2011, Blood.

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

H. Ljunggren, B. Fadeel, M. Nordenskjöld, 2010, Pediatric blood & cancer.

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

E. Onelöv, J. Henter, Y. Bryceson, 2015, The Lancet. Haematology.

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.

W. Al-Herz, H. Ljunggren, M. Nordenskjöld, 2013, Blood.

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

S. Ehl, Miriam Heizmann, M. Nordenskjöld, 2018, The Journal of allergy and clinical immunology.

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

Y. Bryceson, S. Chiang, A. Mansour, 2014, Pediatric blood & cancer.

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

L. Hammarström, M. Nordenskjöld, J. Henter, 2014, The Journal of allergy and clinical immunology.

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.

A. Gennery, A. Worth, L. Hammarström, 2019, The Journal of allergy and clinical immunology.

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

J. Henter, Y. Bryceson, B. Tesi, 2016, Journal of Clinical Immunology.

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

A. Gennery, S. Ehl, A. Worth, 2017, The Journal of allergy and clinical immunology.

Haploinsufficiency of UNC13D increases the risk of lymphoma

I. Bergdahl, M. Nordenskjöld, C. Ahlm, 2019, Cancer.

Efficacy of Moderately Dosed Etoposide in Macrophage Activation Syndrome–Hemophagocytic Lymphohistiocytosis

U. Andersson, A. Horne, J. Henter, 2021, The Journal of Rheumatology.