Results 61 to 70 of about 178,684 (248)

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

Mevalonate kinase deficiency: current perspectives

The Application of Clinical Genetics, 2016
Leslie A Favier, Grant S Schulert Division of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA Abstract: Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of
Favier LA, Schulert GS
doaj  

Immune Deficiency and Autoinflammation, the " Yin" and " Yang" of the Immune System

罕见病研究
Inborn errors of immunity (IEI) are immune system disorders caused by genetic mutations, often presenting with varying degrees of infection, immune dysregulation, lymphoproliferation, and tumor susceptibility.
ZHOU Yu, SONG Hongmei
doaj   +1 more source

Dual Covalent Targeting of STING Cysteines 292/309 Disrupts Functional Oligomerization and Enables Potent Antagonist Development

Advanced Science, EarlyView.
We report a rational design strategy for STING antagonists by dual covalent targeting of Cys292/309 in its C‐terminal domain, directly preventing functional oligomerization. Through covalent warhead repurposing, we identified P005091 and revealed its unique dual‐cysteine mechanism.
Yuxuan Zhao, Ling Huang, Wenjing Qin, Bin Zhang, Yang Yang, Xue Chen, Xiaoquan Wang, Weilin Zhou, Feiyang Chen, Zhenyu Li, Liyuan Le, Yiqiu Zhang, Zhen Xiang, Lu Zhang, Fei Wang, Dan Lei, Zi‐zhe Cai, Ying Gao, Yong Chen, Xuecen Wang, Junmin Quan, Shuixing Zhang, Xianzhang Bu, Xin Yue   +23 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  

Mortality in Antinuclear Antibody-Positive Patients with and Without Rheumatologic Immune-Related Disorders: A Large-Scale Population-Based Study

Medicina
Background & Objectives: To explore the potential association between positive ANA serology and all-cause mortality in a large cohort of patients, including those with and without rheumatological conditions and other immune-related diseases. Material and
Uria Shani, Paula David, Ilana Balassiano Strosberg, Ohad Regev, Mohamad Yihia, Niv Ben-Shabat, Dennis McGonagle, Orly Weinstein, Howard Amital, Abdulla Watad   +9 more
doaj   +1 more source

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source

NALP1 in vitiligo-associated multiple autoimmune disease. [PDF]

, 2007
BACKGROUND: Autoimmune and autoinflammatory diseases involve interactions between genetic risk factors and environmental triggers. We searched for a gene on chromosome 17p13 that contributes to a group of epidemiologically associated autoimmune and ...
Bennett, DC, Fain, PR, Gowan, K, Jin, Y, LaBerge, G, Mailloux, CM, Riccardi, SL, Spritz, RA   +7 more
core   +1 more source

Case report: VEXAS syndrome: an atypical indolent presentation as sacroiliitis with molecular response to azacitidine

Frontiers in Immunology
VEXAS syndrome is a recently described autoinflammatory syndrome caused by the somatic acquisition of UBA1 mutations in myeloid precursors and is frequently associated with hematologic malignancies, chiefly myelodysplastic syndromes. Disease presentation
Roberto Pereira da Costa, Roberto Pereira da Costa, Guilherme Sapinho, Guilherme Sapinho, Matilde Bandeira, Matilde Bandeira, Joana Infante, Joana Infante, Tiago Marques, Carla Mimoso Santos, João Forjaz de Lacerda, João Forjaz de Lacerda, João Eurico Fonseca, João Eurico Fonseca, José Carlos Romeu   +14 more
doaj   +1 more source

A Cooperative Release of Mitochondrial DNA From Platelets and Neutrophils Drives an Interferon Signature in Systemic Sclerosis

Arthritis &Rheumatology, EarlyView.
Objective Mitochondria are organelles with a hypomethylated circular genome. Mitochondrial DNA (mtDNA) in the systemic circulation has been implicated in inflammation. This study investigates the role of circulating DNA in systemic sclerosis (SSc) and the cellular mechanisms governing its release.
Stavros Giaglis, André N. Tiaden, Simone Häner‐Massimi, Diego Kyburz, Cedric André, Anton Glück, Enrico Ferrero, Stuart Hawtin, Tobias Junt, Ulrich A. Walker   +9 more
wiley   +1 more source