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1. Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress

Author

Alberto Iannuzzo, Selket Delafontaine, Rana El Masri, Rachida Tacine, Giusi Prencipe, Masahiko Nishitani-Isa, Rogier T. A. van Wijck, Farzana Bhuyan, Adriana A. de Jesus Rasheed, Simona Coppola, Paul L. A. van Daele, Antonella Insalaco, Raphaela Goldbach-Mansky, Takahiro Yasumi, Marco Tartaglia, Isabelle Meyts, and Jérôme Delon

Subjects
Science
Abstract

Abstract Most autoinflammatory diseases are caused by mutations in innate immunity genes. Previously, four variants in the RHO GTPase CDC42 were discovered in patients affected by syndromes generally characterized by neonatal-onset of cytopenia and auto-inflammation, including hemophagocytic lymphohistiocytosis and rash in the most severe form (NOCARH syndrome). However, the mechanisms responsible for these phenotypes remain largely elusive. Here, we show that the recurrent p.R186C CDC42 variant, which is trapped in the Golgi apparatus, elicits a block in both anterograde and retrograde transports. Consequently, it favours STING accumulation in the Golgi in a COPI-dependent manner. This is also observed for the other Golgi-trapped p.*192 C*24 CDC42 variant, but not for the p.Y64C and p.C188Y variants that do not accumulate in the Golgi. We demonstrate that the two Golgi-trapped CDC42 variants are the only ones that exhibit overactivation of the STING pathway and the type I interferon response, and elicit endoplasmic reticulum stress. Consistent with these results, patients carrying Golgi-trapped CDC42 mutants present very high levels of circulating IFNα at the onset of their disease. In conclusion, we report further mechanistic insights on the impact of the Golgi-trapped CDC42 variants. This increase in STING activation provides a rationale for combination treatments for these severe cases.

Published
2024
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2. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

Author

Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, Blanca Gener, Isabelle Bailleul-Forestier, Isabelle Meyts, Guillaume Jouret, Bertrand Isidor, Carole Brewer, Wim Wuyts, Leen Moens, Selket Delafontaine, Wayne Wing Keung Lam, Kris Van Den Bogaert, Anneleen Boogaerts, Emmanuel Scalais, Thomas Besnard, Benjamin Cogne, Christophe Guissard, Paul Rollier, Wilfrid Carre, Regis Bouvet, Karin Tarte, Ricardo Gómez-Carmona, Pablo Lapunzina, Sylvie Odent, Marie Faoucher, Christele Dubourg, Víctor L. Ruiz-Pérez, Koen Devriendt, Laurent Pasquier, Luis A. Pérez-Jurado, Generalitat de Catalunya, CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Universidad Autónoma de Madrid (UAM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Department of Microbiology, Immunology and Transplantation [Leuven], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), University Hospitals Leuven [Leuven], Laboratoire National de Santé [Luxembourg] (LNS), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut du Thorax [Nantes], Antwerp University Hospital [Edegem] (UZA), Centre Hospitalier de Luxembourg [Luxembourg] (CHL), Geroscience and rejuvenation research center (RESTORE), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Microenvironment and B-cells: Immunopathology,Cell Differentiation, and Cancer (MOBIDIC), Université de Rennes (UR)-Etablissement français du sang [Rennes] (EFS Bretagne)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Universitat Pompeu Fabra [Barcelona] (UPF), and Research reported in this publication was supported by the CatalonianDepartment of Health (URDCAT: Grant SLT002/16/00174) and the ENoD Programme of CIBERER(ER16P08), Instituto de Salud Carlos III. Selket Delafontaine is supported by the personal FWO Grant11F4421N. Isabelle Meyts is a Senior Clinical Investigator at the Research Foundation – Flanders, andis supported by the CSL Behring Chair of Primary Immunodeficiencies, by the KU Leuven C1 GrantC16/18/007, by a VIB GC PID Grant, by the FWO Grants G0C8517N, G0B5120N and G0E8420N and bythe Jeffrey Modell Foundation. Part of this work was supported by a grant from the Spanish Ministryof Science and Innovation (PID2019-105620RB-I00/AEI/10.13039/501100011033). The project hasalso received funding from the European Research Council (ERC) under the European Union’s Horizon2020 research and innovation programme (grant agreement No. 948959). This work is supported byERN-RITA.LAPJ is founding partner and scientific advisor of qGenomics Laboratories. The remaining authorsdeclare no potential conflict of interest.

Subjects
FOSL2 FRA-2 aplasia cutis congenita of scalp enamel hypoplasia AP-1 complex Adams-Oliver syndrome, Autism Spectrum Disorder, MESH: Fos-Related Antigen-2, FOSL2, Fos-Related Antigen-2, MESH: Scalp, Adams-Oliver syndrome, Ectodermal Dysplasia, AP-1 complex, Humans, RNA, Messenger, Genetics (clinical), FRA-2, MESH: Neurodevelopmental Disorders, MESH: RNA, Messenger, enamel hypoplasia, MESH: Autism Spectrum Disorder, MESH: Humans, MESH: Ectodermal Dysplasia, Scalp, Exons, MESH: Transcription Factor AP-1, Transcription Factor AP-1, aplasia cutis congenita of scalp, HEK293 Cells, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, MESH: HEK293 Cells, Human medicine, MESH: Exons
Abstract

[Purpose]: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex., [Methods]: Exome sequencing was used to identify genetic variants in all cases, recruited through Matchmaker exchange. Gene expression in blood was analyzed using reverse transcription polymerase chain reaction. In vitro coimmunoprecipitation and proteasome inhibition assays in transfected HEK293 cells were performed to explore protein and AP-1 complex stability., [Results]: We identified 11 individuals from 10 families with mostly de novo truncating FOSL2 variants sharing a strikingly similar phenotype characterized by prenatal growth retardation, localized cutis scalp aplasia with or without skull defects, neurodevelopmental delay with autism spectrum disorder, enamel hypoplasia, and congenital cataracts. Mutant FOSL2 messenger RNAs escaped nonsense-mediated messenger RNA decay. Truncated FOSL2 interacts with c-JUN, thus mutated AP-1 complexes could be formed., [Conclusion]: Truncating variants in the last exon of FOSL2 associate a distinct clinical phenotype by altering the regulatory degradation of the AP-1 complex. These findings reveal a new role for FOSL2 in human pathology., Research reported in this publication was supported by the Catalonian Department of Health (URDCAT).

Published
2022
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3. Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Author

Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C.W. Jones, Lucia Pacillo, Alyssa E. James, Jill R. Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Henry Y. Lu, Gilbert T. Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P. Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A. Sharma, Joshua Dalmann, Robin van der Lee, Géraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip A. Richmond, Jessica J. Lee, Allison Matthews, Michael Seear, Alexandra K. Turvey, Rachael L. Philips, Terri F. Brown-Whitehorn, Christopher J. Gray, Kosuke Izumi, James R. Treat, Kathleen H. Wood, Justin Lack, Asya Khleborodova, Julie E. Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I. van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui Wah Lee, Marco Hok Kung Ho, Brian Hon Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique Bullens, Kate Sauer, Tania Claeys, Catherine M. Biggs, Emma C. Morris, Sergio D. Rosenzweig, John J. O’Shea, Wyeth W. Wasserman, H. Melanie Bedford, Clara D.M. van Karnebeek, Paolo Palma, Siobhan O. Burns, Isabelle Meyts, Jean-Laurent Casanova, Jonathan J. Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L. McKinnon, Yu Lung Lau, Vivien Béziat, and Stuart E. Turvey

Subjects
All institutes and research themes of the Radboud University Medical Center, Gain of Function Mutation, Immunology, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Humans, Immunology and Allergy, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Immunoglobulin E, STAT6 Transcription Factor, Asthma, Food Hypersensitivity
Abstract

STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a central role in the pathophysiology of allergic inflammation. We have identified 16 patients from 10 families spanning three continents with a profound phenotype of early-life onset allergic immune dysregulation, widespread treatment-resistant atopic dermatitis, hypereosinophilia with esosinophilic gastrointestinal disease, asthma, elevated serum IgE, IgE-mediated food allergies, and anaphylaxis. The cases were either sporadic (seven kindreds) or followed an autosomal dominant inheritance pattern (three kindreds). All patients carried monoallelic rare variants in STAT6 and functional studies established their gain-of-function (GOF) phenotype with sustained STAT6 phosphorylation, increased STAT6 target gene expression, and TH2 skewing. Precision treatment with the anti-IL-4Rα antibody, dupilumab, was highly effective improving both clinical manifestations and immunological biomarkers. This study identifies heterozygous GOF variants in STAT6 as a novel autosomal dominant allergic disorder. We anticipate that our discovery of multiple kindreds with germline STAT6 GOF variants will facilitate the recognition of more affected individuals and the full definition of this new primary atopic disorder. ispartof: J Exp Med vol:220 issue:5 pages:e20221755- ispartof: location:United States status: published

Published
2023

4. Infection and autoinflammation in inborn errors of immunity: brothers in arms

Author

Isabelle Meyts and Selket Delafontaine

Subjects
Programmed cell death, Genotype, Immunology, Autoimmunity, Infections, Immune system, Immunity, medicine, Extracellular, Animals, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Alleles, Autoantibodies, Inflammation, business.industry, Genetic Variation, Endoplasmic Reticulum Stress, medicine.disease, Phenotype, Organ Specificity, Interferon Type I, Mutation, Primary immunodeficiency, business, Biomarkers, Intracellular, Signal Transduction
Abstract

The binary view of inborn errors of immunity classified as either autoinflammatory conditions or primary immunodeficiency in the strict sense, that is, increased susceptibility to infection is challenged by the description of recent inborn errors of immunity (IEI) triggers leading to activation and disruption of cell death pathways, play a major part in the pathophysiology of infection and autoinflammation. In addition, molecules with a double role in the extracellular versus intracellular milieu add to the complexity. In all, in-depth study of human inborn errors of immunity will continue to instruct us on fundamental immunology and lead to novel therapeutic targets and approaches that can be used in other monogenic and polygenic/complex immune disorders.

Published
2021
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5. Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency

Author

Giorgia Bucciol, Cindy S. Ma, Ming-Wei Lin, Jin Yan Yap, Anthony D. Kelleher, Leen Moens, Georgina E Hollway, Isabelle Meyts, Michael S. Hershfield, Kathy H C Wu, Paul Gray, William A. Sewell, Stuart G. Tangye, Karen Enthoven, Alisa Kane, Jose Casas-Martin, Tri Giang Phan, Selket Delafontaine, Lien De Somer, Catherine Toong, and Carine Wouters

Subjects
Adult, Adolescent, Adenosine Deaminase, T cell, DADA2, T-Lymphocytes, Immunology, Humoral immunodeficiency, Monocytes, Young Adult, Immunophenotyping, Agammaglobulinemia, ADA2 deficiency, medicine, SIGLEC-1, Immunology and Allergy, Humans, Child, B cell, Immunodeficiency, Aged, T cell exhaustion, B-Lymphocytes, biology, business.industry, Bone marrow failure, Infant, Cell Differentiation, Dendritic Cells, Middle Aged, medicine.disease, Killer Cells, Natural, medicine.anatomical_structure, Granzyme, Type I IFN signature, Child, Preschool, biology.protein, Intercellular Signaling Peptides and Proteins, Original Article, Severe Combined Immunodeficiency, Bone marrow, business, CD8
Abstract

Purpose Deficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2. Clinical manifestations are diverse, ranging from severe vasculopathy with lacunar strokes to immunodeficiency with viral infections, hypogammaglobulinemia and bone marrow failure. Limited data are available on the phenotype and function of leukocytes from DADA2 patients. The aim of this study was to perform in-depth immunophenotyping and functional analysis of the impact of DADA2 on human lymphocytes. Methods In-depth immunophenotyping and functional analyses were performed on ten patients with confirmed DADA2 and compared to heterozygous carriers of pathogenic ADA2 mutations and normal healthy controls. Results The median age of the patients was 10 years (mean 20.7 years, range 1–44 years). Four out of ten patients were on treatment with steroids and/or etanercept or other immunosuppressives. We confirmed a defect in terminal B cell differentiation in DADA2 and reveal a block in B cell development in the bone marrow at the pro-B to pre-B cell stage. We also show impaired differentiation of CD4+ and CD8+ memory T cells, accelerated exhaustion/senescence, and impaired survival and granzyme production by ADA2 deficient CD8+ T cells. Unconventional T cells (i.e. iNKT, MAIT, Vδ2+ γδT) were diminished whereas pro-inflammatory monocytes and CD56bright immature NK cells were increased. Expression of the IFN-induced lectin SIGLEC1 was increased on all monocyte subsets in DADA2 patients compared to healthy donors. Interestingly, the phenotype and function of lymphocytes from healthy heterozygous carriers were often intermediate to that of healthy donors and ADA2-deficient patients. Conclusion Extended immunophenotyping in DADA2 patients shows a complex immunophenotype. Our findings provide insight into the cellular mechanisms underlying some of the complex and heterogenous clinical features of DADA2. More research is needed to design targeted therapy to prevent viral infections in these patients with excessive inflammation as the overarching phenotype.

Published
2021

6. Correction to: Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients

Author

Hasan Hashem, Giorgia Bucciol, Seza Ozen, Sule Unal, Ikbal Ok Bozkaya, Nurten Akarsu, Mervi Taskinen, Minna Koskenvuo, Janna Saarela, Dimana Dimitrova, Dennis D. Hickstein, Amy P. Hsu, Steven M. Holland, Robert Krance, Ghadir Sasa, Ashish R. Kumar, Ingo Müller, Monica Abreu de Sousa, Selket Delafontaine, Leen Moens, Florian Babor, Federica Barzaghi, Maria Pia Cicalese, Robbert Bredius, Joris van Montfrans, Valentina Baretta, Simone Cesaro, Polina Stepensky, Neven Benedicte, Despina Moshous, Guillaume Le Guenno, David Boutboul, Jignesh Dalal, Joel P. Brooks, Elif Dokmeci, Jasmeen Dara, Carrie L. Lucas, Sophie Hambleton, Keith Wilson, Stephen Jolles, Yener Koc, Tayfun Güngör, Caroline Schnider, Fabio Candotti, Sandra Steinmann, Ansgar Schulz, Chip Chambers, Michael Hershfield, Amanda Ombrello, Jennifer A. Kanakry, and Isabelle Meyts

Subjects
Immunology, Immunology and Allergy
Abstract

Correction to: Journal of Clinical Immunology (2021) 41:1633–1647

Published
2022

8. Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients

Author

Elif Dokmeci, Keith Wilson, Selket Delafontaine, Federica Barzaghi, Simone Cesaro, Jennifer A. Kanakry, Despina Moshous, Sophie Hambleton, Robbert G. M. Bredius, Dimana Dimitrova, Mervi Taskinen, Florian Babor, İkbal Ok Bozkaya, Hasan Hashem, Robert A. Krance, Michael S. Hershfield, Nurten A. Akarsu, Seza Ozen, Polina Stepensky, David Boutboul, Ghadir S. Sasa, Joel P Brooks, Sandra Steinmann, Jignesh Dalal, Isabelle Meyts, Amy P. Hsu, Caroline Schnider, Dennis D. Hickstein, Yener Koc, Guillaume Le Guenno, Minna Koskenvuo, Chip Chambers, Tayfun Güngör, Maria Pia Cicalese, Fabio Candotti, Valentina Baretta, Steven M. Holland, Ingo Müller, Jasmeen Dara, Neven Benedicte, Giorgia Bucciol, Amanda K. Ombrello, Janna Saarela, Stephen Jolles, Ashish R Kumar, Sule Unal, Carrie L. Lucas, Leen Moens, Joris M. van Montfrans, Monica Abreu de Sousa, Ansgar Schulz, Hashem, H., Bucciol, G., Ozen, S., Unal, S., Bozkaya, I. O., Akarsu, N., Taskinen, M., Koskenvuo, M., Saarela, J., Dimitrova, D., Hickstein, D. D., Hsu, A. P., Holland, S. M., Krance, R., Sasa, G., Kumar, A. R., Muller, I., de Sousa, M. A., Delafontaine, S., Moens, L., Babor, F., Barzaghi, F., Cicalese, M. P., Bredius, R., van Montfrans, J., Baretta, V., Cesaro, S., Stepensky, P., Benedicte, N., Moshous, D., Le Guenno, G., Boutboul, D., Dalal, J., Brooks, J. P., Dokmeci, E., Dara, J., Lucas, C. L., Hambleton, S., Wilson, K., Jolles, S., Koc, Y., Gungor, T., Schnider, C., Candotti, F., Steinmann, S., Schulz, A., Chambers, C., Hershfield, M., Ombrello, A., Kanakry, J. A., Meyts, I., HUS Children and Adolescents, Lastentautien yksikkö, Children's Hospital, Clinicum, HUSLAB, Janna Saarela / Principal Investigator, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, and University of Helsinki

Subjects
0301 basic medicine, Adenosine Deaminase 2 Deficiency, Male, Adenosine Deaminase, Graft vs Host Disease, Kaplan-Meier Estimate, PHENOTYPE, Gastroenterology, 0302 clinical medicine, Agammaglobulinemia, hemic and lymphatic diseases, Immunology and Allergy, Child, Immunodeficiency, Hematopoietic cell transplantation, Hematopoietic Stem Cell Transplantation, Deficiency of adenosine deaminase 2, 3. Good health, Treatment Outcome, Child, Preschool, RESCUES, Autoinflammation, Intercellular Signaling Peptides and Proteins, Female, Original Article, medicine.symptom, VASCULOPATHY, Life Sciences & Biomedicine, Adult, medicine.medical_specialty, Adolescent, DADA2, Immunology, ADA2 DEFICIENCY, Malignancy, 03 medical and health sciences, Young Adult, Bone marrow failure, Inborn error of immunity, Internal medicine, medicine, Humans, Retrospective Studies, 030203 arthritis & rheumatology, Cytopenia, Science & Technology, business.industry, Polyarteritis nodosa, Livedo racemosa, Bone Marrow Failure Disorders, medicine.disease, Transplantation, 030104 developmental biology, 3121 General medicine, internal medicine and other clinical medicine, Severe Combined Immunodeficiency, business
Abstract

Purpose Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo racemosa, polyarteritis nodosa, lacunar ischemic strokes, and intracranial hemorrhages), immunodeficiency, lymphoproliferation, immune cytopenias, and bone marrow failure (BMF). Tumor necrosis factor (TNF-α) blockade is the treatment of choice for the vasculopathy, but often fails to reverse refractory cytopenia. We aimed to study the outcome of hematopoietic cell transplantation (HCT) in patients with DADA2. Methods We conducted a retrospective study on the outcome of HCT in patients with DADA2. The primary outcome was overall survival (OS). Results Thirty DADA2 patients from 12 countries received a total of 38 HCTs. The indications for HCT were BMF, immune cytopenia, malignancy, or immunodeficiency. Median age at HCT was 9 years (range: 2–28 years). The conditioning regimens for the final transplants were myeloablative (n = 20), reduced intensity (n = 8), or non-myeloablative (n = 2). Donors were HLA-matched related (n = 4), HLA-matched unrelated (n = 16), HLA-haploidentical (n = 2), or HLA-mismatched unrelated (n = 8). After a median follow-up of 2 years (range: 0.5–16 years), 2-year OS was 97%, and 2-year GvHD-free relapse-free survival was 73%. The hematological and immunological phenotypes resolved, and there were no new vascular events. Plasma ADA2 enzyme activity normalized in 16/17 patients tested. Six patients required more than one HCT. Conclusion HCT was an effective treatment for DADA2, successfully reversing the refractory cytopenia, as well as the vasculopathy and immunodeficiency. Clinical Implications HCT is a definitive cure for DADA2 with > 95% survival.

Published
2021
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9. Hematopoietic Stem Cell Transplantation in ADA2 Deficiency: Early Restoration of ADA2 Enzyme Activity and Disease Relapse upon Drop of Donor Chimerism

Author

Heidi Segers, Isabelle Meyts, Giorgia Bucciol, Michael S. Hershfield, Leen Moens, Xavier Bossuyt, and Selket Delafontaine

Subjects
Male, 0301 basic medicine, medicine.medical_specialty, Adenosine Deaminase, medicine.medical_treatment, Immunology, Donor chimerism, Autoimmunity, Hematopoietic stem cell transplantation, Chimerism, 03 medical and health sciences, 0302 clinical medicine, Medical microbiology, Recurrence, Humans, Immunology and Allergy, Medicine, 030203 arthritis & rheumatology, biology, business.industry, Hematopoietic Stem Cell Transplantation, Immunologic Deficiency Syndromes, Infant, ADA2 DEFICIENCY, Tissue Donors, Enzyme assay, Enzyme Activation, 030104 developmental biology, Child, Preschool, Disease Progression, biology.protein, Intercellular Signaling Peptides and Proteins, Female, business, DISEASE RELAPSE
Published
2017
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10. Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation

Author

Giorgia Bucciol, Bethany Pillay, Rik Schrijvers, Cindy S. Ma, Stuart G. Tangye, Marijke Proesmans, Isabelle Meyts, Xavier Bossuyt, Selket Delafontaine, Jose Casas-Martin, Leen Moens, Johan Coolen, Natalie Lorent, and Thomas Tousseyn

Subjects
medicine.medical_specialty, Immunology, TAKENOUCHI-KOSAKI SYNDROME, Hemorrhage, Systemic inflammation, Medical microbiology, medicine, Immunology and Allergy, Humans, Myelofibrosis, cdc42 GTP-Binding Protein, Lung, Inflammation, business.industry, Infant, Newborn, Syndrome, medicine.disease, Primary Myelofibrosis, Mutation (genetic algorithm), Mutation, Splenomegaly, Female, medicine.symptom, business, Hepatomegaly
Published
2019

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