Results 21 to 30 of about 16,445 (315)

Monogenic Adult-Onset Inborn Errors of Immunity [PDF]

Frontiers in Immunology, 2021
Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic defects that functionally impact the development and/or function of the innate and/or adaptive immune system.
Frederik Staels, Frederik Staels, Tom Collignon, Albrecht Betrains, Albrecht Betrains, Margaux Gerbaux, Margaux Gerbaux, Mathijs Willemsen, Mathijs Willemsen, Stephanie Humblet-Baron, Adrian Liston, Adrian Liston, Steven Vanderschueren, Steven Vanderschueren, Rik Schrijvers, Rik Schrijvers   +15 more
doaj   +4 more sources

Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee [PDF]

Journal of Clinical Immunology, 2022
We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 ...
Stuart G Tangye, Waleed Al-Herz, Steven M Holland   +2 more
exaly   +4 more sources

RIPK1-Associated Inborn Errors of Innate Immunity [PDF]

Frontiers in Immunology, 2021
RIPK1 (receptor-interacting serine/threonine-protein kinase 1) is a key molecule for mediating apoptosis, necroptosis, and inflammatory pathways downstream of death receptors (DRs) and pattern recognition receptors (PRRs).
Jiahui Zhang, Jiahui Zhang, Taijie Jin, Taijie Jin, Ivona Aksentijevich, Qing Zhou, Qing Zhou   +6 more
doaj   +3 more sources

HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity [PDF]

Pathogens, 2022
Patients with inborn errors of immunity (IEI) are prone to develop infections, either due to a broad spectrum of pathogens or to only one microbe. Since skin is a major barrier tissue, cutaneous infections are among the most prevalent in patients with ...
Assiya El Kettani, Fatima Ailal, Jalila El Bakkouri, Khalid Zerouali, Vivien Béziat, Emmanuelle Jouanguy, Jean-Laurent Casanova, Ahmed Aziz Bousfiha   +7 more
doaj   +2 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

Inborn errors of immunity (primary immunodeficiencies) [PDF]

Allergy, Asthma & Clinical Immunology
Primary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function.
Vy H. D. Kim, Julia E. M. Upton, Beata Derfalvi, Kyla J. Hildebrand, Christine McCusker   +4 more
doaj   +2 more sources

Thrombocytopenia in patients with inborn errors of immunity [PDF]

BMC Immunology
Background Inborn errors of immunity (IEI) are inherited defects of innate or adaptive immune system. Thrombocytopenia is a significant multifactorial complication in IEI patients leading to severe clinical consequences including coagulative disorders ...
Saba Fekrvand, Maryam Mohtashami, Negin Sanadgol, Helia Salehi, Najmeh Nameh Goshay Fard, Ehsan Khoshnezhad Afkham, Zahra Chavoshzadeh, Nima Parvaneh, Seyed Alireza Mahdaviani, Samin Sharafian, Sahar Barzamini, Hamid Ahanchian, Arash Kalantari, Alireza Shafiei, Marzieh Tavakol, Farhad Abolnezhadian, Mina Kianmanesh Rad, Gholamreza Hassanpour, Taher Cheraghi, Amir Salehi Farid, Samaneh Delavari, Hassan Abolhassani, Nima Rezaei, Reza Yazdani   +23 more
doaj   +2 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

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.
Dalm, Virgil A S H, Edwards, Emily S J, IJspeert, Hanna, O'Hehir, Robyn E, van Zelm, Menno C   +4 more
core   +3 more sources

Epigenetic Alterations in Inborn Errors of Immunity [PDF]

Journal of Clinical Medicine, 2022
The epigenome bridges environmental factors and the genome, fine-tuning the process of gene transcription. Physiological programs, including the development, maturation and maintenance of cellular identity and function, are modulated by intricate ...
Andrea Riccio, Antonio De Rosa, Chiara Nannola, Claudio Pignata, Cristina Moracas, Elisabetta Toriello, Emilia Cirillo, Emma Coppola, Francesca Cillo, Giuliana Giardino, Laura Pignata, Nicola Brunetti-Pierri, Roberta Romano   +12 more
core   +7 more sources