Results 41 to 50 of about 631,764 (332)

The Challenge of Diagnosis and Indication for Treatment in Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2017
Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD, Carolina S. Aranda MD, MSc, Sandra O. Kyosen MD, MSc, Patricia Varela MSc, Vanessa G. Pereira PhD, Vania D’Almeida PhD, João B. Pesquero PhD, Ana M. Martins MD, PhD   +7 more
doaj   +1 more source

Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes [PDF]

, 2022
In the last two decades two new paradigms changed our way of perceiving primary immunodeficiencies: An increasing number of immune defects are more associated with inflammatory or autoimmune features rather than with infections.
Boz, Valentina, Levantino, Laura, Riccio, Guglielmo, Tommasini, Alberto, Zanchi, Chiara   +4 more
core   +1 more source

Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases

Genetics and Molecular Biology, 2019
Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA).
T. Vieira, F. Trapp, C. Souza, L. Faccini, L. Jardim, I. Schwartz, M. Riegel, C. Vargas, M. Burin, S. Leistner-Segal, P. Ashton-Prolla, R. Giugliani   +11 more
semanticscholar   +1 more source

Understanding very early onset inflammatory bowel disease (VEOIBD) in relation to inborn errors of immunity

Immunological Reviews, 2023
Inflammatory bowel diseases (IBD) are multifactorial diseases which are caused by the combination of genetic predisposition, exposure factors (environmental and dietary), immune status, and dysbiosis.
Caroline H T Hall, E. D. de Zoeten
semanticscholar   +1 more source

Transcription factor defects in inborn errors of immunity with atopy

Frontiers in Allergy, 2023
Transcription factors (TFs) are critical components involved in regulating immune system development, maintenance, and function. Monogenic defects in certain TFs can therefore give rise to inborn errors of immunity (IEIs) with profound clinical ...
M. Vaseghi-Shanjani, Pariya Yousefi, Mehul Sharma, Simran Samra, E. Sifuentes, S. Turvey, C. Biggs   +6 more
semanticscholar   +1 more source

Romiplostim use in pregnant women with immune thrombocytopenia

American Journal of Hematology, Volume 98, Issue 1, Page 31-40, January 2023., 2023
Abstract Treatment for immune thrombocytopenia (ITP) in pregnancy is hampered by the lack of fetal safety evidence of maternally‐administered medications. The Pregnancy Surveillance Program (PSP) collected patient information from 2017–2020 for pregnancy, birth outcomes, and adverse events (AEs) for 186 women exposed to romiplostim from 20 days before ...
James B. Bussel, Nichola Cooper, Tatiana Lawrence, Marc Michel, Emilie Vander Haar, Kejia Wang, Hongmei Wang, Hossam Saad   +7 more
wiley   +1 more source

Bruton tyrosine kinase inhibitors in the management of Waldenström macroglobulinemia

American Journal of Hematology, Volume 98, Issue 2, Page 338-347, February 2023., 2023
Abstract Bruton tyrosine kinase (BTK) inhibitors have taken a central role in the management of patients with Waldenström macroglobulinemia and are the only agents approved by the Food and Drug Administration (FDA) to treat these patients. Although associated with high rates of durable responses, unmet needs with BTK inhibitor therapy include ...
Jorge J. Castillo, Christian Buske, Judith Trotman, Shayna Sarosiek, Steven P. Treon   +4 more
wiley   +1 more source

Known allosteric proteins have central roles in genetic disease [PDF]

, 2021
Allostery is a form of protein regulation, where ligands that bind sites located apart from the active site can modify the activity of the protein. The molecular mechanisms of allostery have been extensively studied, because allosteric sites are less conserved than active sites, and drugs targeting them are more specific than drugs binding the active ...
arxiv   +1 more source

Hereditary myopathy with early respiratory failure in China: one case report and literatures review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2023
Objective To retrospectively analyze the clinical sign and symptom, pathological and genetic characteristics of a case of hereditary myopathy with early respiratory failure (HMERF).
LI Ying, QI Xue‑liang, ZHANG Wei, FENG Li‑qun, LIU Guang‑zhi, YUAN Yun   +5 more
doaj   +1 more source

The Ever-Increasing Array of Novel Inborn Errors of Immunity : an Interim Update by the IUIS Committee [PDF]

, 2021
The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020.
Al-Herz, Waleed, Bousfiha, Aziz, Cunningham-Rundles, Charlotte, Franco, Jose Luis, Holland, Steven M., Klein, Christoph, Meyts, Isabelle, Morio, Tomohiro, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Puel, Anne, Seppänen, Mikko R. J., Somech, Raz, Su, Helen C., Sullivan, Kathleen E., Tangye, Stuart G., Torgerson, Troy R.   +17 more
core   +1 more source