S. Chiang

发表

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT

O. Mäkitie, A. Nordgren, E. Blennow, 2013, Journal of Medical Genetics.

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

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

Measurement of NK Cell Phenotype and Activity in Humans

Y. Bryceson, S. Chiang, 2016 .

Current Flow Cytometric Assays for the Screening and Diagnosis of Primary HLH

S. Chiang, R. Marsh, J. Bleesing, 2019, Front. Immunol..

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.

J. Kere, S. Mustjoki, P. Kovanen, 2015, Blood.

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..

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

S. Hober, Y. Bryceson, S. Chiang, 2016, Bioconjugate chemistry.

Surface CD107a/LAMP-1 protects natural killer cells from degranulation-associated damage.

P. Saftig, H. Schmidt, O. Janssen, 2013, Blood.

MYELOID NEOPLASIA Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunode ﬁ ciency, MDS, and neurological symptoms

T. Fioretos, H. Qian, C. Pronk, 2017 .

Screening for Wiskott-Aldrich syndrome by flow cytometry.

J. Bussel, Kejian Zhang, Ammar Husami, 2018, The Journal of allergy and clinical immunology.

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.

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.

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

L. Folkersen, N. Marquardt, J. Mjösberg, 2017, Immunity.

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..

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

S. Holland, A. Hsu, P. Aukrust, 2017, Blood.

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

T. Fioretos, L. Nilsson, H. Qian, 2017, Blood.

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes.

S. Ehl, N. Binder, L. Moretta, 2012, Blood.

A Newborn With Familial Hemophagocytic Lymphohistiocytosis Complicated With Transfusion Associated Graft Versus Host Disease.

S. Chiang, T. Gunes, E. Unal, 2017, Journal of pediatric hematology/oncology.

Hemophagocytic syndrome in a 4‐month‐old infant with biotinidase deficiency

Y. Bryceson, S. Chiang, T. Patiroglu, 2012, 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.

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

S. Holland, V. Cetica, A. Hsu, 2015, The Journal of allergy and clinical immunology.

Molecular Mechanisms of Natural Killer Cell Activation

C. Fauriat, J. Theorell, Y. Bryceson, 2011, Journal of Innate Immunity.

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

H. Ljunggren, Jeffrey S. Miller, K. Malmberg, 2015, Immunity.

RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis.

T. Tapiainen, L. Dupré, A. Hekkala, 2021, Blood.

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

J. Henter, Y. Bryceson, B. Tesi, 2019, Minerva anestesiologica.

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

Ç. Kasapkara, T. Sekine, Y. Bryceson, 2018, Turkish journal of haematology : official journal of Turkish Society of Haematology.

FUNCTIONAL ASSAYS FOR THE DIAGNOSIS OF PRIMARY DEFECTS IN LYMPHOCYTE CYTOTOXICITY

S. Chiang, 2015 .

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

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

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

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

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

A. Nordgren, M. Möttönen, A. Harila-Saari, 2018, British journal of haematology.

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

J. Coligan, W. Gahl, G. Peruzzi, 2016, The Journal of allergy and clinical immunology.

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.

The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation

R. Månsson, Joseph C. Sun, M. Shoukier, 2021, Science Immunology.

ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis

K. Schwarz, K. Mikoshiba, H. Pircher, 2011, Proceedings of the National Academy of Sciences.

Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations.

T. Sekine, Y. Bryceson, S. Chiang, 2020, Journal of pediatric hematology/oncology.

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

B. Tesi, S. Doğanay, S. Chiang, 2017, Journal of pediatric hematology/oncology.

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.

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

B. Tesi, S. Chiang, H. H. Akar, 2016, Genetic counseling.

A Toolkit and Framework for Optimal Laboratory Evaluation of Individuals with Suspected Primary Immunodeficiency.

Karin Chen, D. Vinh, M. Lawrence, 2021, The journal of allergy and clinical immunology. In practice.

Alemtuzumab treatment for hemophagocytic lymphohistiocytosis

Y. Bryceson, S. Chiang, M. Machaczka, 2010, Nature Reviews Clinical Oncology.

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.

A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease.

S. Burns, K. Gilmour, Y. Bryceson, 2015, Clinical immunology.

Clinical and laboratory signs of haemophagocytic lymphohistiocytosis associated with pandemic influenza A(H1N1) infection in patients needing extracorporeal membrane oxygenation: A retrospective observational study.

J. Henter, Y. Bryceson, B. Tesi, 2020, European journal of anaesthesiology.

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.

Sensitive and viable quantification of inside-out signals for LFA-1 activation in human cytotoxic lymphocytes by flow cytometry.

J. Theorell, Y. Bryceson, S. Chiang, 2011, Journal of immunological methods.

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

J. P. Vieira, Y. Bryceson, B. Tesi, 2019, The Pediatric infectious disease journal.

Novel STAT3 Mutation Causing Hyper-IgE Syndrome: Studies of the Clinical Course and Immunopathology

S. Thunberg, A. Wikström, Y. Bryceson, 2014, Journal of Clinical Immunology.

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

J. Kere, S. Mustjoki, M. Varjosalo, 2019, npj Genomic Medicine.

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

D. Misceo, A. Stray-Pedersen, P. Strømme, 2016, Genes.

Quercetin Ameliorates XIAP Deficiency Associated Hyperinflammation.

S. Davies, P. Mehta, C. Booth, 2022, Blood.

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

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

Cutaneous T-cell lymphoma as a unique presenting malignancy in X-linked magnesium defect with EBV infection and neoplasia (XMEN) disease.

S. Chiang, J. Jacobsen, B. Wright, 2021, Clinical immunology.