Results 41 to 50 of about 6,916 (112)

Red flags to suspect inborn errors of immunity in patients with autoimmune diseases

Biomédica: revista del Instituto Nacional de Salud
Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are ...
Natalia Vélez, Juliette De Ávila, Jaime Cortés, Nelson Barrero, Leosirlay Rojas, Juan Manuel Bello, Consuelo Romero-Sánchez   +6 more
doaj   +1 more source

Current genetic diagnostics in inborn errors of immunity

Frontiers in Pediatrics
New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which ...
Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, Nataliya Di Donato, Ulrich Baumann, Bernd Auber, Christian Klemann, Christian Klemann   +7 more
doaj   +1 more source

Reply to “The early history of the ESID registry”Reply to “The early history of the ESID registry” [PDF]

Journal of Human Immunity
Markus G. Seidel
doaj   +1 more source

Deciphering the clinical and genetic spectrum of early-onset inborn errors of immunity in a Brazilian pediatric cohort

Frontiers in Immunology
Inborn errors of immunity are a heterogeneous group of rare genetic disorders associated with susceptibility to infections, autoimmunity, allergy, and malignancy. Owing to marked clinical variability, phenotypic overlap, and limited access to specialized
Luiza de Mattos, Luiza de Mattos, Mayara Mayer Alves, Mayara Mayer Alves, Nickolas Piller Wegbecher, Nickolas Piller Wegbecher, Ana Paula Diniz Iwamura, Ana Paula Diniz Iwamura, Ana Paula Diniz Iwamura, Irma Cecilia Douglas Paes Barreto, Marina Hideko Kinoshita Assahide, Flavia A. T. M. Guimarães, Patricia Faddul, Gisele Kuntze, Herberto Jose Chong-Neto, Rafaela Wagner, Victor Horacio de Souza Costa Júnior, Saloe Bispo, Laire Schidlowski, Laire Schidlowski, Carolina Prando, Carolina Prando, Carolina Prando   +22 more
doaj   +1 more source

Haploidentical hematopoietic stem cell transplantation using post-transplant cyclophosphamide in patients with inborn errors of immunity: Experience in a reference center in Colombia

Biomédica: revista del Instituto Nacional de Salud
Introduction. Inborn errors of immunity is a diverse group of rare diseases caused by over 400 genetic mutations affecting the immune system and increasing infection susceptibility, autoimmunity, and malignancy.
Diego Medina, Jhonier Orlando Castro, David Esteban Castro, Estefanía Beltrán, Eliana Manzi, Alexis Antonio Franco, Manuela Olaya   +6 more
doaj   +1 more source

Designing an integrated data model for prospective genotype-phenotype in inborn errors of immunity research

Frontiers in Immunology
BackgroundInborn errors of immunity are rare, genetically heterogeneous disorders requiring coordinated clinical, laboratory, and genetic evaluation over time.
Maram Ahmed, Ahmed Aziz Bousfiha, Ahmed Aziz Bousfiha, Farida Almarzooqi, Farida Almarzooqi   +4 more
doaj   +1 more source

Editorial: Immune dysregulation in inborn errors of immunity

Frontiers in Pediatrics, 2023
Eveline Y. Wu, Eveline Y. Wu, Amir H. Shahlaee, Mildred Kwan   +3 more
doaj   +1 more source

The Intertwining Between Arthritis and Inborn Errors of Immunity. [PDF]

J Clin Med
Consolini R, Maestrini G, Abu-Rumeileh S, Costagliola G.   +3 more
europepmc   +1 more source

Correction: LCK'ed in: Inborn errors of immunity in LCK reveal how TCR signaling is calibrated. [PDF]

J Exp Med
Eken A, Johnson SA, Erdem S, Hsieh EWY.
europepmc   +1 more source

Autoimmunity and inborn errors of immunity: a complex coexistence. [PDF]

Front Immunol
Elamine A, Benhsaien I, Ailal F, Hbibi M, Fahi M, Bousfiha AA, El Bakkouri J.   +6 more
europepmc   +1 more source