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1. Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

Author

Olivier Brocq, Pere Soler-Palacín, Jérôme Sirvente, Brigitte Bader-Meunier, Rawane Dagher, Naoki Kitabayashi, Laureline Berteloot, Sophie Willcocks, Nadia Jeremiah, Laura Barnabei, Stefano Volpi, Eline Van Aerde, Sylvain Breton, Damien Chan, Alice Hadchouel, Vincent Bondet, Eric Jeziorski, Despina Moshous, Antonella Insalaco, Jean-Christophe Dubus, Thierry Jo Molina, Isabelle Melki, Nathalie Stremler-Le Bel, Stéphane Blanche, Marie-Anne Morren, Alain Fischer, Mireia Lopez-Corbeto, Gillian I. Rice, Marie-Louise Frémond, Carine Wouters, Yanick J. Crow, Séverine Feuillet-Soummer, Jacques G. Rivière, Françoise Mazingue, Violaine Bresson, Bénédicte Neven, Alexandre Belot, Mathieu Fusaro, Guillaume Thouvenin, Darragh Duffy, Frédéric Rieux-Laucat, Caroline Thumerelle, Luis Seabra, Marco Gattorno, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Pneumologie Allergologie [CHU Necker], Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Service de radiologie pédiatrique [CHU Necker], AP-HP Hôpital universitaire Robert-Debré [Paris], Urgences pédiatriques [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Immunité et cancer (U932), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Curie [Paris], Hospices Civils de Lyon (HCL), Réponse immunitaire innée dans les maladies infectieuses et auto-immunes – Innate immunity in infectious and autoimmune diseases, Centre International de Recherche en Infectiologie - UMR (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris], Immunologie Translationnelle - Translational Immunology lab, Hôpital Princesse Grace [Monaco], Women’s and Children’s Hospital [Adelaide], CHU Notre Dame des Secours [Jbeil], Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Centre chirurgical Marie Lannelongue, CHU Necker - Enfants Malades [AP-HP], IRCCS Istituto Giannina Gaslini [Genoa, Italy], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Vall d'Hebron University Hospital [Barcelona], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), University Hospitals Leuven [Leuven], Lausanne University Hospital, Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester], Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Service de Pneumologie pédiatrique [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Queensland Children's Hospital, Partenaires INRAE, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Service de pathologie [CHU Necker], Collège de France (CdF (institution)), MRC Institute of Genetics and Molecular Medicine [Edinburgh] (IGMM), University of Edinburgh-Medical Research Council, M.-L. Frémond received a grant from the Institut National de la Santé et de la Recherche Médicale (reference: 000427993). Y. J. Crow acknowledges the European Research Council (GA309449 and 786142-E-T1IFNs) and a state subsidy managed by the National Research Agency (France) under the 'Investments for the Future' program bearing the reference ANR-10-IAHU-01. Y. J. Crow and D. Duffy acknowledge the National Research Agency (France) (grant CE17001002)., The authors wish to thank the patients and their families for their cooperation in this study. The authors are grateful to Elvira Duchesne (NP) and Samira Plassart (PhD) for their very helpful technical assistance. They thank Thomas Blauwblomme (MD, PhD, Neurosurgery Unit, Necker Hospital, Paris, France) for providing CSF from children with idiopathic hydrocephalus., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), European Project: 309449,EC:FP7:ERC,ERC-2012-StG_20111109,T1-IFN(2013), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP), Centre Chirurgical Marie Lannelongue (CCML), Pathogenesis and Control of Chronic and Emerging Infections (PCCEI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Université des Antilles (UA)-Etablissement français du don du sang [Montpellier], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
Adult, medicine.medical_specialty, Adolescent, Late onset, Interstitial lung disease, Vasculopathy, Systemic inflammation, Gastroenterology, Nephropathy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Lymphopenia, medicine, Immunology and Allergy, Humans, 030212 general & internal medicine, Vascular Diseases, [SDV.IMM.ALL]Life Sciences [q-bio]/Immunology/Allergology, Child, Type I interferonopathy, Immunodeficiency, Inflammation, STING1, JAK inhibitors, business.industry, Infant, Membrane Proteins, medicine.disease, 3. Good health, Polyarthritis, 030228 respiratory system, Failure to thrive, Mutation, Aicardi–Goutières syndrome, medicine.symptom, Stimulator of interferon genes, business, Lung Diseases, Interstitial
Abstract

BACKGROUND: Gain-of-function mutations in STING1 underlie a type I interferonopathy termed SAVI (STING-associated vasculopathy with onset in infancy). This severe disease is variably characterized by early-onset systemic inflammation, skin vasculopathy, and interstitial lung disease (ILD).OBJECTIVE: To describe a cohort of patients with SAVI.METHODS: Assessment of clinical, radiological and immunological data from 21 patients (17 families) was carried out.RESULTS: Patients carried heterozygous substitutions in STING1 previously described in SAVI, mainly the p.V155M. Most were symptomatic from infancy, but late onset in adulthood occurred in 1 patient. Systemic inflammation, skin vasculopathy, and ILD were observed in 19, 18, and 21 patients, respectively. Extensive tissue loss occurred in 4 patients. Severity of ILD was highly variable with insidious progression up to end-stage respiratory failure reached at teenage in 6 patients. Lung imaging revealed early fibrotic lesions. Failure to thrive was almost constant, with severe growth failure seen in 4 patients. Seven patients presented polyarthritis, and the phenotype in 1 infant mimicked a combined immunodeficiency. Extended features reminiscent of other interferonopathies were also found, including intracranial calcification, glaucoma and glomerular nephropathy. Increased expression of interferon-stimulated genes and interferon α protein was constant. Autoantibodies were frequently found, in particular rheumatoid factor. Most patients presented with a T-cell defect, with low counts of memory CD8+ cells and impaired T-cell proliferation in response to antigens. Long-term follow-up described in 8 children confirmed the clinical benefit of ruxolitinib in SAVI where the treatment was started early in the disease course, underlying the need for early diagnosis. Tolerance was reasonably good.CONCLUSION: The largest worldwide cohort of SAVI patients yet described, illustrates the core features of the disease and extends the clinical and immunological phenotype to include overlap with other monogenic interferonopathies.

Published
2021
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2. Cetirizine - how much is too much?

Author

Annabelle Cranwell, Alka Garg, and Damien Chan

Subjects
medicine.medical_specialty, business.industry, Pharmacy, Cetirizine, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Pharmacology (medical), Pharmacy practice, Intensive care medicine, business, Adverse effect, 030217 neurology & neurosurgery, medicine.drug
Published
2018
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3. Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients

Author

Frank Alvaro, Capucine Picard, Jean-Laurent Casanova, Melanie Wong, Bénédicte Neven, Cindy S. Ma, Damien Chan, John B. Ziegler, Alexandra F. Freeman, Richard Mitchell, Helen C. Su, Theresa Cole, Peter D. Arkwright, Peter Hsu, Jacinta Bustamante, Paul Gray, Stuart G. Tangye, Andrew J. Cant, Joanne Smart, Dennis D. Hickstein, Tri Giang Phan, Katie Frith, Dianne E. Campbell, Sharon Choo, Gulbu Uzel, Jane Peake, Nirali N. Shah, Danielle T. Avery, and Bethany Pillay

Subjects
Adult, 0301 basic medicine, Adolescent, Lydia Becker Institute, T-Lymphocytes, Lymphocyte, medicine.medical_treatment, Hematopoietic stem cell transplantation, Lymphocyte Activation, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Immune system, immune system diseases, ResearchInstitutes_Networks_Beacons/lydia_becker_institute_of_immunology_and_inflammation, Guanine Nucleotide Exchange Factors, Humans, Medicine, Child, Immunodeficiency, B-Lymphocytes, business.industry, Hematopoietic Stem Cell Transplantation, Lymphocyte differentiation, Cell Differentiation, General Medicine, Immunoglobulin E, medicine.disease, Acquired immune system, Treatment Outcome, surgical procedures, operative, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, 030220 oncology & carcinogenesis, Immunology, Dock8, business, Job Syndrome, Abnormal Lymphocyte, Research Article
Abstract

Bi-allelic inactivating mutations in DOCK8 cause a combined immunodeficiency characterised by severe pathogen infections, eczema, allergies, malignancy and impaired humoral responses. These clinical features result from functional defects in most lymphocyte lineages. Thus, DOCK8 plays a key role in immune cell function. Hematopoietic stem cell transplantation (HSCT) is curative for DOCK8 deficiency. While previous reports have described clinical outcomes for DOCK8 deficiency following HSCT, the effect on lymphocyte reconstitution and function has not been investigated. Our study determined whether defects in lymphocyte differentiation and function in DOCK8-deficient patients were restored following HSCT. DOCK8-deficient T and B lymphocytes exhibited aberrant activation and effector function in vivo and in vitro. Frequencies of αβ T and MAIT cells were reduced while γδT cells were increased in DOCK8-deficient patients. HSCT improved, abnormal lymphocyte function in DOCK8-deficient patients. Elevated total and allergen-specific IgE in DOCK8-deficient patients decreased over time following HSCT. Our results document the extensive catalogue of cellular defects in DOCK8-deficient patients, and the efficacy of HSCT to correct these defects, concurrent with improvements in clinical phenotypes. Overall, our findings provide mechanisms at a functional cellular level for improvements in clinical features of DOCK8 deficiency post-HSCT, identify biomarkers that correlate with improved clinical outcomes, and inform the general dynamics of immune reconstitution in patients with monogenic immune disorders following HSCT.

Published
2019
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4. Penicillin stability in prefilled syringes for the purpose of skin testing for drug allergy

Author

Sanjay Garg, Ei Mon Phyo Lwin, Alka Garg, Damien Chan, Yunmei Song, Fotios Ambados, Garg, Alka, Chan, Damien, Ambados, Fotios, Lwin, Ei, Song, Yunmei, and Garg, Sanjay

Subjects
business.industry, Drug Compounding, Drug Storage, Syringes, Drug allergy, Temperature, Penicillins, skin testing, allergy, medicine.disease, Drug Hypersensitivity, Penicillin, penicillin, Drug Stability, Anesthesia, medicine, Immunology and Allergy, prefilled syringes, business, Skin Tests, medicine.drug
Abstract

Up to 10% of the patients attending hospitals report an allergy to penicillin, though only about 6% to 10% of these have a true IgE-mediated allergy, proven by cutaneous tests and drug provocation.1,2 A label of penicillin allergy when a true allergy is not present often leads to lifelong avoidance of penicillin and related drugs.3 This leads to the use of less specific, more expensive antibiotics, contributing to increased adverse effects and antibiotic resistance. Refereed/Peer-reviewed

Published
2015
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5. A Hybrid Control-Oriented PEMFC Model Based on Echo State Networks and Gaussian Radial Basis Functions

Author

José Agustín Aguilar, Damien Chanal, Didier Chamagne, Nadia Yousfi Steiner, Marie-Cécile Péra, Attila Husar, and Juan Andrade-Cetto

Subjects
PEMFC, hybrid model, ESN, radial basis functions, Technology
Abstract

The goal of increasing efficiency and durability of fuel cells can be achieved through optimal control of their operating conditions. In order to implement such controllers, accurate and computationally efficient fuel cell models must be developed. This work presents a hybrid (physics-based and data-driven), control-oriented model for approximating the output voltage of proton exchange membrane fuel cells (PEMFCs) while operating under dynamical conditions. First, a physics-based model, built from simplified electrochemical, membrane dynamics and mass conservation equations, is developed and validated through experimental data. Second, a data-driven, neural network (echo state network) is trained, fitted and tested with the same dataset. Then, the hybrid model is formed as a parallel structure, where the simplified physics-based model and the trained data-driven model are merged through an algorithm based on Gaussian radial basis functions. The merging algorithm compares the output of both single models and assigns weights for computing the prediction of the hybrid result. The proposed hybrid model structure is successfully trained, validated and tested with an experimental dataset originating from fuel cells within an automotive PEMFC stack. The hybrid model is assessed through the mean square error index, with the result of a low tracking error.

Published
2024
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9. Does providing written dietary advice improve the ingestion of non-allergic nuts in children with existing nut allergies? - A randomized controlled trial

Author

Michael Gold, Damien Chan, Caroline South, Patrick Quinn, Merryn J. Netting, Sacha Palmer, and Melissa Norman

Subjects
Nut, Counseling, Male, medicine.medical_specialty, Pediatrics, Allergy, Adolescent, Immunology, Alternative medicine, law.invention, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Randomized controlled trial, Food allergy, law, Risk Factors, Intervention (counseling), Environmental health, medicine, Immunology and Allergy, Ingestion, Humans, Nuts, 030212 general & internal medicine, Child, business.industry, digestive, oral, and skin physiology, Australia, food and beverages, Allergens, medicine.disease, Diet, 030228 respiratory system, Case-Control Studies, Child, Preschool, Quality of Life, Female, Nut Hypersensitivity, Symptom Assessment, business
Abstract

Background Allergy to one or more nuts is common in children and often complete nut avoidance is advised. More recently, introduction of non-allergic nuts into the diet is advised by some allergists. Objective This study aims to determine whether the provision of additional written dietary advice increases the ingestion of non-allergic nuts by children with nut allergy. Secondary aims include determining which factors facilitate or prevent successful inclusion of non-allergic nuts in the diet, and how inclusion influences quality of life, sensitization and the rate of nut reactions. Methods This is a randomized, double-blinded, controlled trial of children with nut allergy who were asked to ingest one or more non-allergic nuts. Participants were 75 children aged 2-16 years (Intervention=36, Control=39), recruited in Adelaide, Australia. Randomized participants were supplied with the intervention (recipe booklet and monthly reminder text messages) or provided standard verbal dietary advice. After 6 months participants were assessed by a blinded investigator with regard to nut ingestion, quality of life, sensitization and nut reactions. Results The intervention did not increase the ingestion of non-allergic nuts. A negative hospital challenge was a predictor of successful introduction. Parental report of child concern about a reaction was the greatest barrier. Ingestion of non-allergic nuts did not improve quality of life or change nut sensitization. Few nut reactions occurred during the study. Conclusions and clinical relevance Ingestion of non-allergic nuts by children with nut allergy was not improved by additional dietary intervention. Selective introduction of non-allergic nuts is difficult to achieve when the child is anxious about introduction and challenges cannot be done in a medically supervised setting. Capsule summary This dietary intervention did not improve non-allergic nut ingestion by nut allergic children. Hospital challenge increased introduction rates, whilst parentally reported child concern about a reaction reduced success. Non-allergic nut ingestion did not change quality of life or sensitization.

Published
2015

10. ASCIA-P74: AUSTRALIAN AUTOINFLAMMATORY DISEASES REGISTRY (AADRY): A NATIONAL APPROACH TO THE GENETIC AND IMMUNOLOGICAL EVALUATION OF PATIENTS WITH SUSPECTED AUTOINFLAMMATORY DISEASE

Author

Alicia Oshlack, Fiona Moghaddas, Constance H. Katelaris, Charlotte Slade, Dunja A. Vekic, Roger C. Allen, Jane Woods, Jonathan D Akikusa, Angela Cox, Jane E Munro, Sue Piper, Peter Gowdie, Vanessa L. Bryant, Ian P. Wicks, Geoffrey D. Cains, Samar Ojaimi, Dianne E. Campbell, Melanie Wong, Len Harrison, David Gillis, Pravin Hissaria, Paul Gray, Sam Mehr, Seth L. Masters, Justine A. Ellis, Joanne Smart, and Damien Chan

Subjects
030207 dermatology & venereal diseases, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, 030220 oncology & carcinogenesis, Immunology, Internal Medicine, Medicine, Autoinflammatory disease, business, Dermatology
Published
2016
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12. P78: RUXOLITINIB USE IN A CHILD WITH CHRONIC MUCOCUTANEOUS CANDIDIASIS AND AUTOSOMAL DOMINANT SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1 GAIN OF FUNCTION (STAT1 GOF) MUTATION

Author

B Marchand, P Quinn, J King, L Dzeladini, Michael Gold, and Damien Chan

Subjects
Pathology, medicine.medical_specialty, Ruxolitinib, biology, business.industry, medicine.disease, Gain of function, Mutation (genetic algorithm), Internal Medicine, STAT protein, medicine, Cancer research, biology.protein, STAT1, Chronic mucocutaneous candidiasis, business, medicine.drug
Published
2017
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