Results 21 to 30 of about 8,524 (262)

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   +4 more sources

Inborn errors of immunity in adulthood

Allergy, Asthma & Clinical Immunology
Inborn errors of immunity (IEIs) are a group of conditions whereby parts of the immune system are missing or dysfunctional. Once thought to primarily be a pediatric disorder, it is now estimated that more than 50% of worldwide incident IEI cases are ...
Joanne J. F. Wang, Arün Dhir, Kyla J. Hildebrand, Stuart E. Turvey, Robert Schellenberg, Luke Y. C. Chen, Persia Pourshahnazari, Catherine M. Biggs   +7 more
doaj   +3 more sources

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   +3 more sources

Neuroinflammation Associated With Inborn Errors of Immunity [PDF]

Frontiers in Immunology, 2022
The advent of high-throughput sequencing has facilitated genotype-phenotype correlations in congenital diseases. This has provided molecular diagnosis and benefited patient management but has also revealed substantial phenotypic heterogeneity.
Hannes Lindahl, Hannes Lindahl, Yenan T. Bryceson, Yenan T. Bryceson, Yenan T. Bryceson   +4 more
doaj   +5 more sources

Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside

Frontiers in Pediatrics, 2019
Inborn errors of immunity are genetic disorders with broad clinical manifestations, ranging from increased susceptibility to infections to significant immune dysregulation, often leading to multiple autoimmune phenomena, lymphoproliferation, and ...
Ottavia Maria Delmonte, Riccardo Castagnoli, Riccardo Castagnoli, Enrica Calzoni, Enrica Calzoni, Luigi Daniele Notarangelo   +5 more
doaj   +2 more sources

Rheumatological manifestations in inborn errors of immunity [PDF]

Pediatric Research, 2019
Rare monogenetic diseases serve as natural models to dissect the molecular pathophysiology of the complex disease traits. Rheumatologic disorders by their nature are considered complex diseases with partially genetic origin, as illustrated by their heterogeneous genetic background and variable phenotypic presentation.
Sevgi, Köstel Bal, Julia, Pazmandi, Kaan, Boztug, Seza, Özen   +3 more
openaire   +3 more sources

Editorial: Inborn errors of immunity and mucosal immunity

Frontiers in Immunology, 2023
Elena Wen-Yuan Hsieh, Elena Wen-Yuan Hsieh, Scott B. Snapper, Edwin F. de Zoeten   +3 more
doaj   +3 more sources

Update on inborn errors of immunity [PDF]

Journal of Allergy and Clinical Immunology
Ever since the first description of an inherited immunodeficiency in 1952 in a boy with gammaglobulin deficiency, new insights have progressed rapidly in disorders that are now referred to as inborn errors of immunity. In a field where fundamental molecular biology, genetics, immune signaling, and clinical care are tightly intertwined, 2022-24 saw a ...
Hanna IJspeert, Emily S.J. Edwards, Robyn E. O’Hehir, Virgil A.S.H. Dalm, Menno C. van Zelm   +4 more
openaire   +3 more sources

Human inborn errors of immunity: diagnosis and management [PDF]

Exploration of Immunology
Primary immunodeficiency disease (PID) now known as inborn errors of immunity (IEI) is genetic disorder(s) that impair the immune system. IEI is a heterogeneous group of diseases of more than 485 lifelong genetic disorders mainly due to intrinsic defect ...
Iftekhar Mahmood
doaj   +2 more sources

Proteasome disorders and inborn errors of immunity

Immunological Reviews, 2023
SummaryInborn errors of immunity (IEI) or primary immune deficiencies (PIDD) are caused by variants in genes encoding for molecules that are relevant to the innate or adaptive immune response. To date, defects in more than 450 different genes have been identified as causes of IEI, causing a constellation of heterogeneous clinical manifestations ranging
Poli Harlowe, María Cecilia
openaire   +4 more sources