Results 31 to 40 of about 15,747 (332)

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

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation [PDF]

, 2020
Susceptibility to herpes simplex virus type 1 (HSV-1) encephalitis (HSE-1) in otherwise healthy individuals, in the course of primary infection, can be caused by single-gene inborn errors of Toll-like receptor 3 (TLR3) dependent, interferon (IFN)-alpha ...
Casanova, Jean-Laurent, Chen, Jie, Glumoff, Virpi, Hautala, Timo, Huuskonen, Usko, Kraatari, Minna, Kuismin, Outi, Lehtonen, Johanna, Lorenzo, Lazaro, Partanen, Terhi, Saarela, Janna, Seppänen, Mikko R. J., Tervonen, Laura, Vuorinen, Tytti, Winqvist, Satu, Zhang, Shen-Ying, Åström, Pirjo   +16 more
core   +2 more sources

Liver immunity, autoimmunity, and inborn errors of immunity

World Journal of Hepatology, 2023
The liver is the front line organ of the immune system. The liver contains the largest collection of phagocytic cells in the body that detect both pathogens that enter through the gut and endogenously produced antigens. This is possible by the highly developed differentiation capacity of the liver immune system between self-antigens or non-self ...
Parlar, Yavuz Emre, Ayar, Sefika Nur, Cagdas, Deniz, Balaban, Yasemin H   +3 more
openaire   +2 more sources

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

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

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

Human inborn errors of immunity associated with IRF4

Frontiers in Immunology, 2023
The transcription factor interferon regulatory factor 4 (IRF4) belongs to the IRF family and has several important functions for the adaptive immune response.
Romane Thouenon, Romane Thouenon, Sven Kracker, Sven Kracker   +3 more
doaj   +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

Inborn Errors of Immunity: New Insights. [PDF]

Acta Med Acad
This paper presents a comprehensive and updated overview of inborn errors of immunity (IEIs), focusing on the optimal treatment strategies. IEIs or primary immunodeficiencies (PIDs) are a heterogeneous group of approximately 500 disorders, classified into ten categories according to the affected component of the immune system. The clinical presentation
Roganović J, Bellesi G.
europepmc   +3 more sources