Results 31 to 40 of about 15,568 (286)

IKZF-associated inborn errors of immunityIKZF-associated inborn errors of immunity [PDF]

Journal of Human Immunity
Germline variants in IKZF family proteins cause inborn errors of immunity characterized by variable degrees of immunodeficiency, immune dysregulation, and occasional malignancies.
Motoi Yamashita, Tomohiro Morio
doaj   +1 more source

Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases

Journal of Fungi, 2023
Inborn errors of immunity are a heterogeneous group of genetically determined disorders that compromise the immune system, predisposing patients to infections, autoinflammatory/autoimmunity syndromes, atopy/allergies, lymphoproliferative disorders, and ...
Peter Olbrich, Donald C. Vinh
doaj   +1 more source

Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]

, 2001
Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Clements JA, Crouch E, deMello DE, Dirksen U, Doyle IR, Fisher JH, Floros J, Glasser SW, Green D, Hawgood S, Ikegami M, Ikegami M, Ikegami M, Kitamura T, Kresch MJ, Madan T, Mahut B, Mason RJ, Myrianthopoulos NC, Nogee LM, Pilot-Matias TJ, Power JHT, Prakash UBS, Reed JA, Robertson B, Rosen SH, Stoll BJ, Tredano M, Vorbroker DK, Wang J-Y   +29 more
core   +1 more source

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity [PDF]

, 2017
Beginning in 1970, a committee was constituted under the auspices of the World Health Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the International Union of Immunological Societies (IUIS) took the remit of this committee.
Al-Herz, W, Bobby Gaspar, H, Bousfiha, A, Casanova, JL, Chatila, T, Crow, YJ, Cunningham-Rundles, C, Etzioni, A, Franco, JL, Holland, SM, Klein, C, Morio, T, Ochs, HD, Oksenhendler, E, Picard, C, Puck, J, Sullivan, KE, Tang, MLK, Tangye, SG, Torgerson, TR   +19 more
core   +4 more sources

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Impaired biotin status in anticonvulsant therapy [PDF]

, 1982
In 264 epileptics undergoing long-term therapy with anticonvulsants, significantly reduced plasma biotin levels were found compared with a normal control group: 74% of the epileptics had biotin levels for those treated with sodium valproate were higher ...
Bonjour, Charles, Cowan, Frigg, Krause, Patsalos, Sander, Thoene   +7 more
core   +1 more source

Historic landmarks in clinical transplantation: Conclusions from the consensus conference at the University of California, Los Angeles [PDF]

, 2000
The transplantation of organs, cells, and tissues has burgeoned during the last quarter century, with the development of multiple new specialty fields.
Brent, LB, Calne, RY, Dausset, JB, Good, RA, Groth, CG, Murray, JE, Schwartz, RS, Shumway, NE, Starzl, TE, Terasaki, PI, Thomas, ED, Van Rood, JJ   +11 more
core   +1 more source

Treosulfan-based conditioning for inborn errors of immunity

Therapeutic Advances in Hematology, 2021
Inborn errors of immunity (IEI) are inherited disorders that lead to defects in the development and/or function of the immune system. The number of disorders that can be treated by haematopoietic stem-cell transplantation (HSCT) has increased rapidly ...
Mary A. Slatter, Andrew R. Gennery
doaj   +1 more source

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe [PDF]

, 2013
Background: Chronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect the coiled-coil domain (CCD) of STAT1.
Adrien Katalin Sarkadi, Anastasia Bondarenko, Anna Sediva, Anne Puel, Avinash Abhyankar, Beáta Soltész, Beáta Tóth, Bogunovic, Boisson-Dupuis, Bolze, Briggs, Browne, Byun, Caughman, Chalouhi, David Neumann, den Dunnen, Engelhardt, Filipe-Santos, Gabriella Csorba, Holland, Hong, Hori, Horváth, Jayaraman, Jean-Laurent Casanova, Jiri Litzman, Kita, Leonóra Méhes, Li, Li, Liao, Lilic, Lipton, Liu, Liudmyla Chernyshova, László Maródi, Marazzi, Maródi, Maródi, Maródi, Maródi, Maródi, Maródi, McKenna, Mertens, Mielke, Minegishi, Nadejda Shabashova, Naik, Oppenheim, Pavel Rozsíval, Puel, Puel, Puel, Rice, Satoshi Okada, Selmi, Smeekens, Sophie Cypowyj, Szilvia Taskó, Takezaki, Tóth, van de Veerdonk, Zheng, Zhong, Zsolt Tulassay   +66 more
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Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

Liver Transplantation, EarlyView., 2022
Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala, Bridget Whitehead, Justin Godown, Matt Hall, Anna Banc‐Husu, Estella M. Alonso, Sarah A. Taylor   +6 more
wiley   +1 more source