Results 311 to 320 of about 2,726,696 (323)

Delineating the Clinical and Immunologic Characteristics: A Comparative Study of Inborn Errors of Immunity in Adult versus Pediatric Diagnosed

International Archives of Allergy and Immunology
Introduction: Inborn errors of immunity (IEIs) are rare genetic disorders primarily identified in children due to their significant effects on immune system functionality.
Esra Karabıber, S. Barış
semanticscholar   +1 more source

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Journal of Clinical Immunology, 2022
A. Bousfiha, Abderrahmane Moundir, S. Tangye, C. Picard, L. Jeddane, W. Al-Herz, C. C. Rundles, J. Franco, S. Holland, C. Klein, T. Morio, É. Oksenhendler, A. Puel, J. Puck, M. Seppänen, R. Somech, H. Su, K. Sullivan, T. Torgerson, I. Meyts   +19 more
semanticscholar   +1 more source

Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection

European Journal of Clinical Investigation
Genetic diagnosis of inborn errors of immunity (IEI) is complex due to the large number of genes involved and their molecular features. Missense variants have been reported as the most common cause of IEI.
Elisabet Matas Pérez, Andrea González Torbay, Mario Solis López, Ricardo Cuesta Martín de la Cámara, Carmen Rodríguez Jiménez, Mari Ángeles Mori Álvarez, Julián Nevado Blanco, Carla Gianelli, Carmen Cámara Hijón, Eduardo López Granados, Rebeca Rodríguez Pena, Ángela del Pozo Mate, M. García-Morato   +12 more
semanticscholar   +1 more source

The multidisciplinary approach to diagnosing inborn errors of immunity: a comprehensive review of discipline-based manifestations

Expert Review of Clinical Immunology
Introduction Congenital immunodeficiency is named primary immunodeficiency (PID), and more recently inborn errors of immunity (IEI). There are more than 485 conditions classified as IEI, with a wide spectrum of clinical and laboratory manifestations ...
Niloufar Yazdanpanah, Nima Rezaei
semanticscholar   +1 more source

Inborn errors of immunity: an expanding universe of disease and genetic architecture

Nature reviews genetics, 2023
Yemsratch T. Akalu, D. Bogunovic
semanticscholar   +1 more source

Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.

American Journal of Clinical Dermatology
Yasmine Oprea, Daniel R Antohi, M. Vague, Caroline Delbourgo Patton, Benedict Wu, A. Ortega-Loayza   +5 more
semanticscholar   +1 more source

Cancer Prevalence in Children with Inborn Errors of Immunity: Report from a Single Institution.

Journal of Clinical Immunology
María Raquel Mitchell, Luciano Urdinez, A. Bernasconi, S. Danielián, María Martha Katsikas, E. Sajaroff, Georgina Roffé, Nélida M Villa, L. Galluzzo, Marianela Sanz, Alejandro M Palma, Carolina Bouso, E. Prieto, Verónica Goris, Judith Yancoski, Sergio D Rosenzweig, M. Oleastro, A. Rosé, W. Cacciavillano, G. Felizzia, M. Guitter, C. G. Sánchez La Rosa, Mailen Ríos, P. Zubizarreta, M. Felice, Jorge G Rossi   +25 more
semanticscholar   +1 more source

Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis.

Journal of Clinical Immunology
F. Çelmeli, Ayse Oz, H. S. Kıhtır, E. Ongun, Aysel Tekmenuray-Unal, S. Ceylaner, A. Aykut, Sultan Aydın, S. Barış   +8 more
semanticscholar   +1 more source

Type 2 T-Helper Cell Driven Manifestations of Inborn Errors of Immunity.

Journal of Allergy and Clinical Immunology
Alyssa E. James, M. Abdalgani, P. Khoury, Alexandra F. Freeman, Joshua D Milner   +4 more
semanticscholar   +1 more source

Update on inborn errors of immunity.

Journal of Allergy and Clinical Immunology
Hanna IJspeert, E. Edwards, Robyn E. O’Hehir, Virgil A. S. H. Dalm, M. V. van Zelm   +4 more
semanticscholar   +1 more source