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2. Inflammatory Gene Expression Profile and Defective Interferon‐γ and Granzyme K in Natural Killer Cells From Systemic Juvenile Idiopathic Arthritis Patients

Author

Put, Karen, Vandenhaute, Jessica, Avau, Anneleen, van Nieuwenhuijze, Annemarie, Brisse, Ellen, Dierckx, Tim, Rutgeerts, Omer, Garcia‐Perez, Josselyn E., Toelen, Jaan, Waer, Mark, Leclercq, Georges, Goris, An, Van Weyenbergh, Johan, Liston, Adrian, De Somer, Lien, Wouters, Carine H., and Matthys, Patrick

Published
2017
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6. Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

Author

Heremans, Jessica, Garcia-Perez, Josselyn E, Turro, Ernest, Schlenner, Susan M, Casteels, Ingele, Collin, Roxanne, De Zegher, Francis, Greene, Daniel, Humblet-Baron, Stephanie, Lesage, Sylvie, Matthys, Patrick, Penkett, Christopher J, Put, Karen, Stirrups, Kathleen, National Institute For Health Research BioResource, Thys, Chantal, Van Geet, Chris, Van Nieuwenhove, Erika, Wouters, Carine, Meyts, Isabelle, Freson, Kathleen, Liston, Adrian, Turro Bassols, Ernest [0000-0002-1820-6563], Stirrups, Kathleen [0000-0002-6823-3252], Liston, Adrian [0000-0002-6272-4085], and Apollo - University of Cambridge Repository

Subjects
Blood Platelets, Adolescent, Primary Immunodeficiency Diseases, Osteochondrodysplasias, Roifman syndrome, Retinal Diseases, RNA, Small Nuclear, Exome Sequencing, Humans, Protein Splicing, Cell Lineage, Child, Cells, Cultured, Cell Proliferation, Mitogen-Activated Protein Kinase 1, B cells, B-Lymphocytes, Precursor Cells, B-Lymphoid, Immunologic Deficiency Syndromes, Infant, Cell Differentiation, Pedigree, RNA processing, Child, Preschool, platelets, Mental Retardation, X-Linked, Cardiomyopathies, Megakaryocytes, Signal Transduction
Abstract

BACKGROUND: Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, growth retardation, cognitive delay, hypogammaglobulinemia, and, in some patients, thrombocytopenia. Compound heterozygous variants in the small nuclear RNA gene RNU4ATAC, which is necessary for U12-type intron splicing, were identified recently as driving Roifman syndrome. OBJECTIVE: We studied 3 patients from 2 unrelated kindreds harboring compound heterozygous or homozygous stem II variants in RNU4ATAC to gain insight into the mechanisms behind this disorder. METHODS: We systematically profiled the immunologic and hematologic compartments of the 3 patients with Roifman syndrome and performed RNA sequencing to unravel important splicing defects in both cell lineages. RESULTS: The patients exhibited a dramatic reduction in B-cell numbers, with differentiation halted at the transitional B-cell stage. Despite abundant B-cell activating factor availability, development past this B-cell activating factor-dependent stage was crippled, with disturbed minor splicing of the critical mitogen-activated protein kinase 1 signaling component. In the hematologic compartment patients with Roifman syndrome demonstrated defects in megakaryocyte differentiation, with inadequate generation of proplatelets. Platelets from patients with Roifman syndrome were rounder, with increased tubulin and actin levels, and contained increased α-granule and dense granule markers. Significant minor intron retention in 354 megakaryocyte genes was observed, including DIAPH1 and HPS1, genes known to regulate platelet and dense granule formation, respectively. CONCLUSION: Together, our results provide novel molecular and cellular data toward understanding the immunologic and hematologic features of Roifman syndrome.

Published
2018

7. Insufficient IL-10 Production as a Mechanism Underlying the Pathogenesis of Systemic Juvenile Idiopathic Arthritis

Author

Imbrechts, Maya, primary, Avau, Anneleen, additional, Vandenhaute, Jessica, additional, Malengier-Devlies, Bert, additional, Put, Karen, additional, Mitera, Tania, additional, Berghmans, Nele, additional, Burton, Oliver, additional, Junius, Steffie, additional, Liston, Adrian, additional, de Somer, Lien, additional, Wouters, Carine, additional, and Matthys, Patrick, additional

Published
2018
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8. Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

Author

Heremans, Jessica, primary, Garcia-Perez, Josselyn E., additional, Turro, Ernest, additional, Schlenner, Susan M., additional, Casteels, Ingele, additional, Collin, Roxanne, additional, de Zegher, Francis, additional, Greene, Daniel, additional, Humblet-Baron, Stephanie, additional, Lesage, Sylvie, additional, Matthys, Patrick, additional, Penkett, Christopher J., additional, Put, Karen, additional, Stirrups, Kathleen, additional, Thys, Chantal, additional, Van Geet, Chris, additional, Van Nieuwenhove, Erika, additional, Wouters, Carine, additional, Meyts, Isabelle, additional, Freson, Kathleen, additional, and Liston, Adrian, additional

Published
2018
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9. Inflammatory Gene Expression Profile and Defective Interferon‐γ and Granzyme K in Natural Killer Cells From Systemic Juvenile Idiopathic Arthritis Patients

Author

Put, Karen, primary, Vandenhaute, Jessica, additional, Avau, Anneleen, additional, van Nieuwenhuijze, Annemarie, additional, Brisse, Ellen, additional, Dierckx, Tim, additional, Rutgeerts, Omer, additional, Garcia‐Perez, Josselyn E., additional, Toelen, Jaan, additional, Waer, Mark, additional, Leclercq, Georges, additional, Goris, An, additional, Van Weyenbergh, Johan, additional, Liston, Adrian, additional, De Somer, Lien, additional, Wouters, Carine H., additional, and Matthys, Patrick, additional

Published
2016
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10. Mouse Cytomegalovirus Infection in BALB/c Mice Resembles Virus-Associated Secondary Hemophagocytic Lymphohistiocytosis and Shows a Pathogenesis Distinct from Primary Hemophagocytic Lymphohistiocytosis

Author

Brisse, Ellen, primary, Imbrechts, Maya, additional, Put, Karen, additional, Avau, Anneleen, additional, Mitera, Tania, additional, Berghmans, Nele, additional, Rutgeerts, Omer, additional, Waer, Mark, additional, Ninivaggi, Marisa, additional, Kelchtermans, Hilde, additional, Boon, Louis, additional, Snoeck, Robert, additional, Wouters, Carine H., additional, Andrei, Graciela, additional, and Matthys, Patrick, additional

Published
2016
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12. ID: 195

Author

Avau, Anneleen, primary, Imbrechts, Maya, additional, Put, Karen, additional, Brisse, Ellen, additional, Mitera, Tania, additional, Leclercq, Georges, additional, Wouters, Carine H., additional, and Matthys, Patrick, additional

Published
2015
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15. ID: 195: Identification of cytokine cell sources in a new mouse model of systemic juvenile idiopathic arthritis highlights innate immunity of this disorder.

Author

Avau, Anneleen, Imbrechts, Maya, Put, Karen, Brisse, Ellen, Mitera, Tania, Leclercq, Georges, Wouters, Carine H., and Matthys, Patrick

Subjects
*NATURAL immunity, *JUVENILE idiopathic arthritis, *TYPE I interferons, *CYTOKINES, *GENOMES
Abstract

Objective: Systemic juvenile idiopathic arthritis (sJIA) is a rheumatic childhood disease, with distinctive systemic inflammatory features and a typical cytokine profile. The etiology of sJIA is largely unknown. Here, we aimed to elucidate the role of specific cell populations and cytokines in the pathogenesis, by means of a new mouse model of sJIA relying on the injection of complete Freund’s adjuvant (CFA) in interferon-gamma deficient (IFN-g KO) mice. Wild type (WT) mice developed a minor inflammation, indicating that IFN-g provides protection in the disease process. Methods: Cytokine mRNA levels were analyzed in organs and purified immune cell populations of CFA-challenged IFN-g KO and WT mice. Cytokine antagonists and cell depleting antibodies were administered to mice. Clinical, laboratory and immune features of sJIA were evaluated. Results: In the diseased IFN-g KO mice, elevated expression of IL 1 β , IL-6, IL-17 and IL-22 were found in lymph nodes and – remarkably – also in lung tissue. Gamma-delta T cells were a major cell source for IL-17, and anti-IL-17 antibodies abrogated the disease. In the non-diseased WT mice, expression of IFN-g was almost exclusively found in NK, NKT and gamma-delta T cells. Transient neutralization of IFN-g as well as depletion of NK cells in WT mice both resulted in a fulminant sJIA-like disease. Conclusion: These data pinpoint innate immune cells and non-lymphoid organs as important sources of cytokines in CFA-induced animal models. The results also demonstrate that NK cells provide a regulatory function in the pathogenesis of sJIA, by production of IFN-g. [ABSTRACT FROM AUTHOR]

Published
2015
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