Results 21 to 30 of about 7,598 (255)

Inborn errors of immunity and related microbiome

Frontiers in Immunology, 2022
Inborn errors of immunity (IEI) are characterized by diverse clinical manifestations that are dominated by atypical, recurrent, chronic, or severe infectious or non-infectious features, including autoimmunity, lymphoproliferative disease, granulomas, and/
Raja Hazime, Raja Hazime, Fatima-Ezzohra Eddehbi, Saad El Mojadili, Nadia Lakhouaja, Ikram Souli, Abdelmouïne Salami, Bouchra M’Raouni, Imane Brahim, Mohamed Oujidi, Morad Guennouni, Ahmed Aziz Bousfiha, Ahmed Aziz Bousfiha, Brahim Admou, Brahim Admou   +14 more
doaj   +1 more source

Visceral Leishmaniasis Revealing Undiagnosed Inborn Errors of Immunity

Revista da Sociedade Brasileira de Medicina Tropical, 2023
Visceral Leishmaniasis (VL) is a potentially fatal disease and may be associated with primary or acquired immunodeficiencies. There are few reports, in the literature, of inborn errors of immunity.
Daniel Gleison Carvalho, Dewton de Moraes Vasconcelos, Andreia Cristiane Rangel Santos, Jose Angelo Lauletta Lindoso   +3 more
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

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

Granulomatous inflammation in inborn errors of immunity

Frontiers in Pediatrics, 2023
Granulomas have been defined as inflammatory infiltrates formed by recruitment of macrophages and T cells. The three-dimensional spherical structure typically consists of a central core of tissue resident macrophages which may merge into multinucleated ...
Keith A. Sacco, Andrea Gazzin, Luigi D. Notarangelo, Ottavia M. Delmonte   +3 more
doaj   +1 more source

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

Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis. [PDF]

J Clin Immunol
Lee JK, Jang JH, Kim DR, Shin A, Park JH, Kim YG, Kim JW, Kim YJ, Kang ES.   +8 more
europepmc   +2 more sources

Rheumatologic manifestations in children with underlying inborn errors of immunity. [PDF]

BMC Rheumatol
Saeidi Z, Fadai S, Mesdaghi M, Mirzaee AZ, Sharafian S, Rahmani K, Eslami N, Parvaneh VJ, Talebi M, Chavoshzadeh Z, Shiari R.   +10 more
europepmc   +3 more sources

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

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