Article
Multidisciplinary Sciences
Maureen M. Leonard, Francesco Valitutti, Hiren Karathia, Meritxell Pujolassos, Victoria Kenyon, Brian Fanelli, Jacopo Troisi, Poorani Subramanian, Stephanie Camhi, Angelo Colucci, Gloria Serena, Salvatore Cucchiara, Chiara Maria Trovato, Basilio Malamisura, Ruggiero Francavilla, Luca Elli, Nur A. Hasan, Ali R. Zomorrodi, Rita Colwell, Alessio Fasano
Summary: This study analyzed the gut microbiome and metabolites of infants at risk of CD, revealing shifts in microbiota before CD onset. Some microbial species were linked to autoimmune and inflammatory conditions, while others had anti-inflammatory effects. Previously unreported microbes/pathways/metabolites were also identified as potential CD-specific biomarkers, pointing towards new therapeutic targets.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Immunology
Melinda Erdos, Miyuki Tsumura, Judit Kallai, Arpad Lanyi, Zoltan Nyul, Gyorgy Balazs, Satoshi Okada, Laszlo Marodi
Summary: STAT-3 gain-of-function syndrome is a monogenic inborn error of immunity characterized by multi-organ autoimmune disorders, growth failure and lymphoproliferation. This syndrome can present with hypogammaglobulinemia, recurrent severe respiratory infections, and interstitial lung disease. Patients with lymphoproliferation, hypogammaglobulinemia, and severe recurrent infections should be screened for STAT-3 variants.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
(2021)
Article
Gastroenterology & Hepatology
Marisa G. Stahl, Cristy Geno Rasmussen, Fran Dong, Kathleen Waugh, Jill M. Norris, Judith Baxter, Liping Yu, Andrea K. Steck, Brigitte I. Frohnert, Edwin Liu, Marian J. Rewers
Summary: The Autoimmunity Screening for Kids (ASK) study conducted in Colorado is a large-scale pediatric screening program focusing on celiac disease (CD) and type 1 diabetes. The study identified a high prevalence of undiagnosed CD autoimmunity in the screened US population, with significant associations found between confirmed RBA TGA+ and family history of CD, non-Hispanic white ethnicity, and female sex.
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2021)
Article
Pediatrics
Florian Gothe, Jonathan Gehrig, Christina K. Rapp, Katrin Knoflach, Simone Reu-Hofer, Florian Langer, Dirk Schramm, Julia Ley-Zaporozhan, Stephan Ehl, Nicolaus Schwerk, Laura Faletti, Matthias Griese
Summary: This study reports three individuals with de novo STAT3 GOF alleles and early-onset, severe interstitial lung disease. Imaging and histology revealed fibrotic and cystic tissue destruction in the lung. The definitive diagnosis was established by postmortem whole exome sequencing and functional validation of new STAT3 variants.
PEDIATRIC PULMONOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Federica Farina, Laura Pisapia, Mariavittoria Laezza, Gloria Serena, Antonio Rispo, Simona Ricciolino, Carmen Gianfrani, Alessio Fasano, Giovanna Del Pozzo
Summary: Macrophages play a crucial role in the development of celiac disease by expressing CD-associated HLA-DQ2.5 risk alleles differently from other antigen-presenting cells. Gliadin stimulation increases the expression of DQA1*05:01 and decreases the expression of DQB1*02:01 in macrophages, along with downregulation of DRB1 genes and CIITA transactivator.
Article
Immunology
Ineke L. Tan, Rodrigo Coutinho de Almeida, Rutger Modderman, Anna Stachurska, Jackie Dekens, Donatella Barisani, Caroline R. Meijer, Maria Roca, Eva Martinez-Ojinaga, Raanan Shamir, Renata Auricchio, Ilma R. Korponay-Szabo, Gemma Castillejo, Hania Szajewska, Sibylle Koletzko, Alexandra Zhernakova, Vinod Kumar, Yang Li, Marijn C. Visschedijk, Rinse K. Weersma, Riccardo Troncone, M. Luisa Mearin, Cisca Wijmenga, Iris Jonkers, Sebo Withoff
Summary: The study identified 53 circulating miRNAs as potential early biomarkers for CeD, with some being detectable more than a year before TGA positivity and showing normalization upon GFD.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Immunology
Yevgeniya Gartshteyn, Anca D. Askanase, Adam Mor
Summary: T cell activation relies on signals integration from T cell receptor and co-receptors, with SLAM-SAP signaling playing a crucial role in T cell immunity, where balanced signaling is crucial for immune health.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Health Care Sciences & Services
Marcell Imrei, David Nemeth, Zsolt Szakacs, Peter Hegyi, Szabolcs Kiss, Hussain Alizadeh, Fanni Dembrovszky, Piroska Pazmany, Judit Bajor, Andrea Parniczky
Summary: This meta-analysis aimed to evaluate the prevalence of celiac disease among CF patients and review observations on other autoimmune diseases. The study found that the prevalence of CeD in CF patients appeared to be more than twice as high as the global prevalence, suggesting routine screening for CeD in CF may be beneficial.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Immunology
Christoph Thurm, Annegret Reinhold, Katrin Borucki, Sascha Kahlfuss, Eugen Feist, Jens Schreiber, Dirk Reinhold, Burkhart Schraven
Summary: The study found that COVID-19 vaccines do not significantly induce the production of autoantibodies commonly associated with autoimmune diseases, but provide immunity to SARS-CoV-2.
Review
Gastroenterology & Hepatology
Achintya D. Singh, Prashant Singh, Naba Farooqui, Tor Strand, Vineet Ahuja, Govind K. Makharia
Summary: The study found that the prevalence of celiac disease was 11.2% for patients with all-cause short stature and 9.7% for patients with idiopathic short stature, with biopsy-confirmed celiac disease rates of 7.4% and 11.6%, respectively. Evaluating for celiac disease may be beneficial for all patients with short stature.
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Article
Gastroenterology & Hepatology
Inka Koskinen, Kaisa Hervonen, Heini Huhtala, Camilla Pasternack, Teea Salmi, Timo Reunala, Pekka Collin, Katri Kaukinen
Summary: This study aimed to determine the long-term mortality of celiac disease. The results showed that overall mortality was not increased in any celiac disease phenotype during a very long-term follow-up, but mortality from certain diseases was increased and the risk of alcohol-related diseases was decreased.
DIGESTIVE AND LIVER DISEASE
(2022)
Review
Pathology
Rasmus Iversen, Ludvig M. Sollid
Summary: Among HLA-associated disorders, celiac disease is well understood in terms of immunopathogenesis. This disease is characterized by hypersensitivity to gluten proteins and affects the gut. Diagnosis can be made by detecting autoantibodies to transglutaminase 2 in the blood. This review provides insights into the immunobiology of this common disorder that lies between food hypersensitivity and autoimmunity.
ANNUAL REVIEW OF PATHOLOGY-MECHANISMS OF DISEASE
(2023)
Article
Pediatrics
Angela Mauro, Francesca Casini, Antonella Talenti, Clelia Di Mari, Anna Rita Benincaso, Giovanni Di Nardo, Luca Bernardo
Summary: Celiac disease is an immune-mediated enteropathy caused by gluten sensitivity in genetically susceptible individuals. In rare cases, it can lead to a severe and potentially life-threatening manifestation known as celiac crisis. Early identification of celiac crisis symptoms is crucial for prompt diagnosis and management. We report a case of a 22-month-old child with celiac crisis presenting with weight loss, vomiting, and diarrhea accompanied by malnutrition.
FRONTIERS IN PEDIATRICS
(2023)
Review
Cell Biology
Michael Macklin, Chelsea Thompson, Leticia Kawano-Dourado, Iazsmin Bauer Ventura, Camila Weschenfelder, Andres Trostchansky, Aline Marcadenti, Robert M. Tighe
Summary: Adipose tissue has functions beyond energy storage, including endocrine and immune functions. Dysfunction of adipose tissue can lead to detrimental consequences such as altered hormonal signaling and inflammation. More research is needed to understand the relationship between obesity and chronic lung conditions.
Article
Chemistry, Multidisciplinary
Asbjorn Christophersen, Shiva Dahal-Koirala, Marketa Chlubnova, Jorgen Jahnsen, Knut E. A. Lundin, Ludvig M. Sollid
Summary: This article tests the feasibility of isolating gluten-reactive T cells in celiac disease by sorting T cells based on their distinct phenotypes. The results show that a high percentage of T cells sorted based on the distinct phenotype exhibit gluten reactivity. The study also reveals clonal expansion and sequence sharing, indicating antigen-driven responses. This finding highlights the potential of using phenotypic markers to characterize disease-driving CD4(+) T cells in autoimmune conditions.
Article
Pathology
Alexandre Bardet, Florence Riccardi, Julia Torrents, Francoise Capasso, Marc-Antoine Devooght, Christophe Buffat, Alexandre Fabre, Marie -Dominique Piercecchi-Marti, Clemence Delteil
Summary: We report a case of an 8 and a half month old infant who died despite optimal resuscitation management. Autopsy revealed multi-visceral failure and early onset inflammatory bowel disease. Genetic consultation confirmed the diagnosis and identified a pathogenic gene variant.
ANNALES DE PATHOLOGIE
(2022)
Article
Medicine, Research & Experimental
Alberto Baeri, Michael Levraut, Serena Diazzi, Olivier Camuzard, Marianne Cegarra-Escolano, Marie-Anne Ploumellec, Thierry Balaguer, Julien Fassy, Roger Rezzonico, Saverio Bellusci, Bernard Mari, Georges Vassaux
Summary: This study assessed the potential antifibrotic role of metformin in Dupuytren disease (DD) and found that metformin inhibits TGF-8-induced expression of fibrotic markers and contraction in hand-derived fibroblasts. This supports the case for a clinical trial to assess the repurposing of metformin as an adjuvant to surgery in order to prevent, reduce, or delay recurrence in at-risk DD patients.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Article
Pediatrics
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, Pascale De Lonlay, Jean-Baptiste Arnoux, Anais Brassier, Manuel Schiff, Samia Pichard, Alexandre Fabre, Celia Hoebeke, Nathalie Guffon, Alain Fouilhoux, Pierre Broue, Guy Touati, Dries Dobbelaere, Karine Mention, Francois Labarthe, Marine Tardieu, Loic De Parscau, Francois Feillet, Chrystele Bonnemains, Alice Kuster, Philippe Labrune, Magalie Barth, Lena Damaj, Delphine Lamireau, Julie Berbis, Pascal Auquier, Brigitte Chabrol
Summary: This study investigated the determinants of quality of life in children with inborn errors of metabolism with restricted diet. The results showed that anxiety and behavioral problems were the most important factors associated with poorer quality of life. Parental anxiety, younger age at diagnosis, and a disease requiring an emergency diet were also associated with poorer quality of life. Psychosocial factors appear to be major determinants of quality of life impairment in these children.
JOURNAL OF PEDIATRICS
(2022)
Review
Cell Biology
Sandy Fellah, Romain Larrue, Marin Truchi, Georges Vassaux, Bernard Mari, Christelle Cauffiez, Nicolas Pottier
Summary: This article summarizes the functions of the noncoding RNA DNM3OS in diseases and its potential as a novel therapeutic target.
WILEY INTERDISCIPLINARY REVIEWS-RNA
(2023)
Article
Medicine, General & Internal
Marion Almes, Anne Spraul, Mathias Ruiz, Muriel Girard, Bertrand Roquelaure, Nolwenn Laborde, Frederic Gottrand, Anne Turquet, Thierry Lamireau, Alain Dabadie, Marjorie Bonneton, Alice Thebaut, Babara Rohmer, Florence Lacaille, Pierre Broue, Alexandre Fabre, Karine Mention-Mulliez, Jerome Bouligand, Emmanuel Jacquemin, Emmanuel Gonzales
Summary: This study evaluated the use of NGS in pediatric cholestasis and found that it provided a certain diagnosis in 28.1% of the included patients. However, further investigation is needed to determine the impact of variants, especially in patients with variants of uncertain significance.
Article
Medicine, General & Internal
Alexandre Fabre, Julien Mancini
Summary: This study compared genes with high genetic constraint to random genes and found that highly constrained genes are more likely to be associated with Mendelian diseases and have diverse modes of inheritance. The study also found a correlation between high genetic constraint and intragenic constraint scores.
INTRACTABLE & RARE DISEASES RESEARCH
(2022)
Review
Clinical Neurology
Pierre-Yves Maillard, Sarah Baer, Elise Schaefer, Beatrice Desnous, Nathalie Villeneuve, Anne Lepine, Alexandre Fabre, Caroline Lacoste, Salima El Chehadeh, Amelie Piton, Louise Frances Porter, Caroline Perriard, Marie-Therese Abi Warde, Marie-Aude Spitz, Vincent Laugel, Gaetan Lesca, Audrey Putoux, Dorothee Ville, Cyril Mignot, Delphine Heron, Rima Nabbout, Giulia Barcia, Marlene Rio, Agathe Roubertie, Pierre Meyer, Veronique Paquis-Flucklinger, Olivier Patat, Jeremie Lefranc, Marion Gerard, Julietta de Bellescize, Laurent Villard, Anne De Saint Martin, Mathieu Milh
Summary: This study describes the phenotypes associated with GABA(A)-receptor subunit variants and investigates potential genotype-phenotype correlations. The results show that despite the similarities in molecular structure and physiological role, GABA(A)-receptor subunit variants are associated with highly variable phenotypes. Furthermore, the location of the variant on the protein may be a marker of severity.
Article
Pediatrics
Audrey Nicolas, Madeleine Aumar, Lea Chantal Tran, Alice Tiret, Remi Duclaux-Loras, Laure Bridoux-Henno, Florence Campeotto, Alexandre Fabre, Anne Breton, Jeanne Languepin, Maeva Kyheng, Jerome Viala, Stephanie Coopman, Frederic Gottrand
Summary: This study aimed to compare the efficacy and complications of the two main treatments for achalasia: endoscopic dilatation and surgical cardiomyotomy (Heller's myotomy). After adjusting for potential confounding factors, Heller's myotomy was significantly more successful than endoscopy dilatation, with no significant difference in the occurrence of serious complications.
JOURNAL OF PEDIATRICS
(2022)
Article
Pediatrics
C. de Leusse, C. Roman, B. Roquelaure, A. Fabre
Summary: Among the known congenital disaccharidase deficiencies, the prevalence is relatively high for congenital lactase deficiency and congenital sucrase-isomaltase deficiency, while the prevalence is low for congenital trehalase deficiency.
ARCHIVES DE PEDIATRIE
(2022)
Article
Pediatrics
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, Pascale De Lonlay, Jean-Baptiste Arnoux, Anais Brassier, Manuel Schiff, Samia Pichard, Alexandre Fabre, Celia Hoebeke, Nathalie Guffon, Alain Fouilhoux, Pierre Broue, Guy Touati, Dries Dobbelaere, Karine Mention, Francois Labarthe, Marine Tardieu, Loic De Parscau, Francois Feillet, Chrystele Bonnemains, Alice Kuster, Philippe Labrune, Magalie Barth, Lena Damaj, Delphine Lamireau, Julie Berbis, Pascal Auquier, Brigitte Chabrol
Summary: The objective of this study was to compare the quality of life (QoL) of parents of children with inborn errors of metabolism (IEMs) requiring a restricted diet with the French population norms and investigate the determinants of parental QoL. The results showed that compared to the general population, parents of children with IEMs requiring a restricted diet reported lower QoL in physical and social relationship domains but higher QoL in the psychological domain. Factors such as parent-related characteristics and family-related factors were found to be associated with poorer parental QoL in the multivariate analysis.
JOURNAL OF PEDIATRICS
(2023)
Article
Biology
Anais M. Quemener, Laura Bachelot, Marc Aubry, Stephane Avner, Delphine Leclerc, Gilles Salbert, Florian Cabillic, Didier Decaudin, Bernard Mari, Frederic Mouriaux, Marie-Dominique Galibert, David Gilot
Summary: The study reveals that miR-16 plays a crucial role in Uveal melanoma (UM) by interacting with specific RNAs and promoting their expression levels through non-canonical base-pairing. This impaired the decay of oncogenes, leading to increased cancer aggressiveness. Evaluation of miR-16 activity can effectively predict the overall survival of UM patients.
LIFE SCIENCE ALLIANCE
(2022)
Article
Medicine, General & Internal
Alexandre Fabre, Julien Mancini
Summary: This study compared the constraint metrics and associations with Mendelian diseases between the LUCA gene group and a random gene group. The results showed differences in constraint and Mendelian disease associations between the two groups.
INTRACTABLE & RARE DISEASES RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Alexandre Fabre, Anne Fabre, Celine Bon, Paul Guerry, Laure Segurel
Summary: Lactase persistence is a strongly selected phenotype in humans, encoded by multiple genetic variants. The underlying mechanism is unclear as adults, including lactase non-persistence individuals, can tolerate dairy products. Cultural adaptations, such as fermentation and transformation, in ancient societies may have provided energy to both lactase persistence and non-persistence individuals without any cost.
Article
Biochemistry & Molecular Biology
Kevin Lebrigand, Joseph Bergenstrahle, Kim Thrane, Annelie Mollbrink, Konstantinos Meletis, Pascal Barbry, Rainer Waldmann, Joakim Lundeberg
Summary: SiT is an explorative method for characterizing spatial isoform variation and sequence heterogeneity using long-read sequencing. It reveals regional isoform switching and identifies differential isoform usage in the mouse brain. SiT also provides an in-depth A-to-I RNA editing map of the adult mouse brain, and data exploration can be performed through an online resource.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Oncology
Olivia Vidal-Cruchez, Victoria J. Nicolini, Tifenn Rete, Karine Jacquet, Roger Rezzonico, Caroline Lacoux, Marie-Angela Domdom, Barnabe Romeo, Jeremie Roux, Arnaud Hubstenberger, Bernard Mari, Baharia Mograbi, Paul Hofman, Patrick Brest
Summary: Cancer therapies targeting the MAPK pathway lead to drug resistance. Overexpression of RAS has been linked to this resistance, but the underlying mechanisms are unclear. This study shows that MEK inhibitors increase translation of KRAS and NRAS oncogenes through liquid-liquid phase separation, specifically P-body dissolution. This feedback loop involving P-bodies and phase separation could be important for future targeted therapies.