Results 181 to 190 of about 618,834 (263)

Diagnostic implications and correlates of plasma ADA2 activity and ADA2 variants

Arthritis &Rheumatology, Accepted Article.
Objectives Deficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease manifested as polyarteritis nodosa, stroke, and bone marrow failure. Leveraging an international cohort of 200 DADA2 cases, we aimed to characterize the diagnostic utility of a plasma ADA2 enzyme activity assay and understand the implications of residual ADA2
Jian Yue, Courtney E. LeSon, Casey A. Rimland, Kailey Brodeur, Rachel Weng, Evan E. Hsu, Michael T. Lam, Manpreet Meyer, Seigo Okada, Andrew L. D. Hsu, Musaab A. Alhezam, Megan M. Perron, Olha Halyabar, Fatma Dedeoglu, Peter A. Nigrovic, Akiko Shimamura, R. Grant Rowe, Megan A. Cooper, Tiphanie P. Vogel, Miriah Gillispie‐Taylor, Rosemary Peterson, Clara Lin, Katherine D. Nowicki, Kaylee Dollerschell, Taizo A. Nakano, Roxane Labrosse, Alexis‐Virgil Cochino, Andreea Ioan, Leonardo Oliveira Mendonca, Samar Freschi Barros, Jorge Kalil, Javier Perez Rojas, Alicia Diaz Kuan, Eric S. Sobel, Taha Moussa, Samuel Shang Ming Lee, Li Wearn Koh, Archana Khan, Sodality Sutnga, Raju Khubchandani, Walaa Shoman, Yasmine El Chazli, Benzeeta Pinto, Chengappa Kavadichanda, Roshini S. Abraham, Xiangwei Sun, Qing Zhou, GSRSNK Naidu, Aman Sharma, Carl Esperanzate, Daniel L. Kastner, Ivona Aksentijevich, Susan J. Kelly, Michael Hershfield, Teresa K. Tarrant, Pui Y. Lee   +55 more
wiley   +1 more source

A rare case report of activated PI3K delta syndrome (APDS): diagnostic pitfalls. [PDF]

BMC Pediatr
Ahmad Shawaludin MQ, Zainudeen ZT, Taib F, Husin A, Ali A, Abd Hamid IJ.   +5 more
europepmc   +1 more source

Genetic diseases of renal phosphate handling.

Nephrology, Dialysis and Transplantation, 2014
C. Wagner, I. Rubio-Aliaga, J. Biber, N. Hernando   +3 more
semanticscholar   +1 more source

Autoimmune thyroid disease in inborn errors of immunity: a retrospective perspective. [PDF]

Orphanet J Rare Dis
Bayrak Durmaz MS, Ozdel Ozturk B, Gorgulu Akin B, Kalkan F, Soyyiğit S.   +4 more
europepmc   +1 more source

Drugs induced Raynaud's phenomenon and underlying mechanism: a disproportionality analysis from the WHO pharmacovigilance database

Arthritis &Rheumatology, Accepted Article.
Objectives The aim of this study is to generate hypotheses about unknown drugs associated with the onset or worsening of Raynaud's Phenomenon (RP) and to explore their potential pathophysiological mechanisms through a mixed disproportionality/clustering analysis from the WHO pharmacovigilance database.
Alex Hlavaty, Loubna Dari, Jean‐Luc Cracowski, Matthieu Roustit, Charles Khouri   +4 more
wiley   +1 more source

Case Report: Preserved umbilical cords underscore family histories of inborn errors of immunity. [PDF]

Front Immunol
Nishimura M, Tomomasa D, Suzuki R, Miyaoka F, Kanegane H.   +4 more
europepmc   +1 more source

Defining Optimally Safe and Effective Blood Levels of Hydroxychloroquine in Lupus: An Important Step toward Precision Drug Monitoring

Arthritis &Rheumatology, Accepted Article.
Background Using hydroxychloroquine (HCQ) dose of 5 mg/kg/day in systemic lupus erythematosus (SLE) is associated with a higher risk of flares; HCQ blood level monitoring could be a better way to adjust HCQ dose. We studied the upper threshold for a reference range of HCQ levels to inform routine monitoring.
Shivani Garg, Benoît Blanchet, Yann Nguyen, Fauzia Hollnagel, Ada Clarke, Michelle Petri, Murray B. Urowitz, John G. Hanly, Caroline Gordon, Sang‐Cheol Bae, Juanita Romero‐Diaz, Jorge Sanchez‐Guerrero, Ann E. Clarke, Sasha Bernatsky, Daniel J. Wallace, David A. Isenberg, Anisur Rahman, Joan T. Merrill, Paul R. Fortin, Dafna D. Gladman, Ian N. Bruce, Ellen M. Ginzler, Mary Anne Dooley, Rosalind Ramsey‐Goldman, Susan Manzi, Andreas Jönsen, Graciela S. Alarcón, Ronald F. Van Vollenhoven, Cynthia Aranow, Véronique Le Guern, Meggan Mackay, Guillermo Ruiz‐Irastorza, S. Sam Lim, Murat Inanc, Kenneth C. Kalunian, Søren Jacobsen, Christine A. Peschken, Diane L. Kamen, Anca Askanase, Jill Buyon, Julie Chezel, Alicja Puszkiel, Nathalie Costedoat‐Chalumeau   +42 more
wiley   +1 more source

The Spectrum of Bacterial Infection in a Large Cohort of Chinese Pediatric Patients with Inborn Errors of Immunity: A Nine-year, Retrospective, Single-center Study. [PDF]

J Clin Immunol
Zhu X, Fu P, Wang W, Ying W, Sun B, Hou J, Hui X, Sun J, Wang C, Zhou Q, Wang X.   +10 more
europepmc   +1 more source

Effects of Renal and Hepatic Impairment on the Pharmacokinetics of Zilurgisertib

British Journal of Clinical Pharmacology, EarlyView.
Aim Small‐molecule activin receptor‐like kinase‐2 inhibitor zilurgisertib (INCB000928) is under investigation in a pivotal trial for the treatment of fibrodysplasia ossificans progressiva (FOP), an ultrarare genetic condition. This analysis assessed effects of renal and hepatic impairment on zilurgisertib pharmacokinetics.
Yan‐ou Yang, Yunlan Fang, Phillip Wang, Xiang Liu, Jay Getsy, Kevin Rockich   +5 more
wiley   +1 more source

Psychosocial Factors Involved in Genetic Testing for Rare Diseases: A Scoping Review. [PDF]

Genes (Basel)
Strasser S, McDonald IR, Uveges MK, Hesse-Biber S, Keels J, Smith N, Dwyer AA.   +6 more
europepmc   +1 more source