Results 51 to 60 of about 157,940 (239)

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications [PDF]

, 2017
G6PC3 deficiency typically causes severe congenital neutropenia, associated with susceptibility to infections, cardiac and urogenital abnormalities. However, here we describe two boys of Pakistani origin who were found to have G6PC3 deficiency due to c ...
Angelino, Banka, Banka, Boztug, Bégin, de Luca, Desplantes, Dieckgraefe, Fata, Jun, Korzenik, Lin, Marks, Martinon, McGonagle, O’Neill, Pathak, Rieber, Rimessi, Uzel, Vats, Visser, Yang   +22 more
core   +4 more sources

The Physician‐Scientist Pipeline for Pediatric Rheumatology – Current Landscape and Future Perspectives.

Arthritis Care &Research, Accepted Article.
Over the past 50 years, the science of pediatric rheumatology has grown exponentially due to an expansion in the understanding of complex rheumatic conditions and a surge in novel targeted therapeutics. Physician‐scientists in the field of pediatric rheumatology have played major roles in these advancements that have improved the care of children ...
Ekemini A. Ogbu, Linda T. Hiraki, Mara L. Becker   +2 more
wiley   +1 more source

The needed daily dose of colchicine in patients with Familial Mediterranean Fever may be higher in women: a study on behalf of the JIR cohort

Arthritis Research & Therapy
Background At present, there are no data on the relationship between colchicine dose and weight in patients with Familial Mediterranean Fever (FMF). We aimed at describing the daily colchicine dose in a cohort of FMF patients.
Ilenia Di Cola, Alessandra Bartoli, Léa Savey, Fatima Bensalek, Marion Delplanque, Rim Bourguiba, Zohra Aknouche, Isabelle Kone-Paut, Linda Rossi-Semerano, Isabelle Melki, Brigitte Bader-Meunier, Bénédicte Neven, Pierre Quartier, Guilaine Boursier, Laurence Cuisset, Gilles Grateau, Véronique Hentgen, Sophie Georgin-Lavialle   +17 more
doaj   +1 more source

Pustular Eruptions in Children as Manifestations of Autoinflammatory Diseases

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2019
Nowadays, in clinical practice, when attending a child with a pustular eruption and systemic inflammation, it is mandatory to think of an autoinflammatory disease, once infectious causes have been ruled out.
Felicidade Santiago, Antonio Torrelo
doaj   +1 more source

Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Idiopathic recurrent pericarditis (IRP) is an orphan disease that carries significant morbidity, partly driven by corticosteroid dependence.
Claire J. Peet, Dorota Rowczenio, Ebun Omoyinmi, Charalampia Papadopoulou, Bella Ruth R. Mapalo, Michael R. Wood, Francesca Capon, Helen J. Lachmann   +7 more
doaj   +1 more source

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype [PDF]

, 2016
Autoinflammatory disorders (AID) are a heterogeneous group of diseases, characterized by an unprovoked innate immune response, resulting in recurrent or ongoing systemic inflammation and fever1-3.
Blokx, W. A. M., Boes, M., de Koning, H. D., de Kovel, C., Frenkel, J., Giltay, J., Oberndorff, K., Schalkwijk, J., Simon, A., van Gijn, M. E., van Kempen, T. S., van Steensel, M. A. M., van Well, G. T. J., Volker-Touw, C. M. L.   +13 more
core   +2 more sources

High Humidity Exacerbates Psoriasiform Skin Disease Relapse by Increasing Tissue‐Resident Memory T Cells via Altering Skin Microbiota

Advanced Science, EarlyView.
We demonstrated that high humidity worsened psoriasis relapse in murine psoriasiform skin inflammation by increasing skin‐resident memory CD8+ cells via upregulating IL‐15Rα on keratinocytes. The increases in IL‐15Rα and memory CD8+ cells were attributed to S. nepalensis and its metabolite ADMA in skin exposed to high humidity.
Chun‐Ling Liang, Yuchao Chen, Chuanjian Lu, Huazhen Liu, Fenglian Qin, Sisi Dai, Feifei Qiu, Haiming Chen, Weihui Lu, Jonathan S. Bromberg, Zhenhua Dai   +10 more
wiley   +1 more source

A case of chronic recurrent multifocal osteomyelitis associated with Crohn's disease [PDF]

, 2015
Chronic recurrent multifocal osteomyelitis (CRMO) is an auto-inflammatory bone disease of unknown etiology, most commonly affecting the metaphysis of long bones, especially the tibia, femur and clavicle. The clinical spectrum varies from self-limited uni-
De Baets, Frans, Dehoorne, Jo, Van Biervliet, Stephanie, van Ommen, Christi, Van Winckel, Myriam, Vande Velde, Saskia   +5 more
core  

Neutralization of IFN-γ reverts clinical and laboratory features in a mouse model of macrophage activation syndrome. [PDF]

, 2018
BACKGROUND: The pathogenesis of macrophage activation syndrome (MAS) is not clearly understood: a large body of evidence supports the involvement of mechanisms similar to those implicated in the setting of primary hemophagocytic lymphohistiocytosis ...
Bracaglia, Claudia, Caiello, Ivan, Chatel, Laurence, De Min, Cristina, Fabrizio De Benedetti, And, Ferlin, Walter G., Grom, Alexei A., Marasco, Emiliano, Pascarella, Antonia, Prencipe, Giusi, Strippoli, Raffaele   +10 more
core   +1 more source

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey. [PDF]

, 2020
Primary Immune Regulatory Disorders (PIRD) are an expanding group of diseases caused by gene defects in several different immune pathways, such as regulatory T cell function.
Allenspach, Eric J, Andolina, Jeffrey R, Aquino, Victor M, Bacchetta, Rosa, Bednarski, Jeffrey J, Bhatia, Monica, Buckley, Rebecca H, Burroughs, Lauri M, Caywood, Emi, Chan, Alice Y, Chandrakasan, Shanmuganathan, Chellapandian, Deepak, Chen, Karin, Chong, Hey, Cooper, Megan A, Cowan, Morton J, Craddock, John A, Cuvelier, Geoffrey DE, Davila Saldana, Blachy J, de la Morena, Maria Teresa, Dorsey, Morna J, Dvorak, Christopher C, Forbes, Lisa R, Gennery, Andrew R, Goldman, Frederick D, Griffith, Linda M, Haddad, Elie, Heimall, Jennifer, Jordan, Michael B, Kapoor, Neena, Kohn, Donald B, Leiding, Jennifer W, Liu, Xuerong, Logan, Brent R, Marsh, Rebecca A, Martinez, Caridad, Meyts, Isabelle, Miller, Holly K, Notarangelo, Luigi D, Oshrine, Benjamin R, Pai, Sung-Yun, Parikh, Suhag, Prockop, Susan E, Puck, Jennifer M, Pulsipher, Michael A, Seidel, Markus G, Seroogy, Christine M, Shenoy, Shalini, Shereck, Evan, Shyr, David C, Skoda-Smith, Suzanne, Slatter, Mary, Smith, Angela R, Sullivan, Kathleen E, Torgerson, Troy R, Uzel, Gulbu, Vander Lugt, Mark T, Walter, Jolan E, Weinacht, Katja G, Wright, Nicola   +59 more
core   +1 more source