PMC Articles for MedGen (Select 1787543) - PMC

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Items: 11

Select item 90160221.

The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity

Markus G. Seidel, Victoria K. Tesch, Linlin Yang, Fabian Hauck, Anna Lena Horn, Maria Anna Smolle, Franz Quehenberger, Martin Benesch

J Clin Immunol. 2022; 42(3): 484–498. Published online 2021 Nov 19. doi: 10.1007/s10875-021-01177-2

Correction in:: J Clin Immunol. 2022; 42(3): 499.

PMCID:: PMC9016022

Abstract Article PDF–1.3M

Select item 88104602.

ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies

Filippo Consonni, Eleonora Gambineri, Claudio Favre

Ann Hematol. 2022; 101(3): 469–484. Published online 2022 Jan 20. doi: 10.1007/s00277-022-04761-7

PMCID:: PMC8810460

Abstract Article PDF–3.2M

Select item 87653413.

Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study

Ebe Schiavo, Beatrice Martini, Enrico Attardi, Filippo Consonni, Sara Ciullini Mannurita, Maria Luisa Coniglio, Marco Tellini, Elena Chiocca, Ilaria Fotzi, Laura Luti, Irene D’Alba, Marinella Veltroni, Claudio Favre, Eleonora Gambineri

Front Immunol. 2021; 12: 790455. Published online 2022 Jan 4. doi: 10.3389/fimmu.2021.790455

PMCID:: PMC8765341

Abstract Article PDF–6.4M

Select item 81170054.

Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome

Marta López-Nevado, Jorge Docampo-Cordeiro, José T. Ramos, Rebeca Rodríguez-Pena, Celia Gil-López, Silvia Sánchez-Ramón, Juana Gil-Herrera, María J. Díaz-Madroñero, María A. Delgado-Martín, Pablo Morales-Pérez, Estela Paz-Artal, Aude Magerus, Frederic Rieux-Laucat, Luis M. Allende

Front Immunol. 2021; 12: 656356. Published online 2021 Apr 29. doi: 10.3389/fimmu.2021.656356

PMCID:: PMC8117005

Abstract Article PDF–2.3M

Select item 108391195.

Clinical utility of measuring CD4⁺ T follicular cells in patients with immune dysregulation

Brenna LaBere, Alan A. Nguyen, Saddiq B. Habiballah, Megan Elkins, Juliet Imperial, Betty Li, Sridevi Devana, Suraj Timilsina, Spencer B. Stubbs, Jill Joerger, Janet Chou, Craig D. Platt

J Autoimmun. Author manuscript; available in PMC 2024 Nov 1.

Published in final edited form as: J Autoimmun. 2023 Nov; 140: 103088. Published online 2023 Aug 5. doi: 10.1016/j.jaut.2023.103088

PMCID:: PMC10839119

Abstract Article PDF–1.1M

Select item 107102666.

Late-Onset Autoimmune Lymphoproliferative Syndrome in a Costa Rican Woman

Alberto Alfaro-Murillo, Oscar Correa-Jimenez, Jorge González-Chapa, Tibisay Viloria-González, Melvin Calvo-Solís, Silvia Maradei-Anaya

Cureus. 2023 Dec; 15(12): e50226. Published online 2023 Dec 9. doi: 10.7759/cureus.50226

PMCID:: PMC10710266

Abstract Article PDF–297K

Select item 99480217.

STAT3 gain-of-function syndrome

Tiphanie P. Vogel, Jennifer W. Leiding, Megan A. Cooper, Lisa R. Forbes Satter

Front Pediatr. 2022; 10: 770077. Published online 2023 Feb 9. doi: 10.3389/fped.2022.770077

PMCID:: PMC9948021

Abstract Article PDF–6.6M

Select item 99451148.

Rare immune diseases paving the road for genome editing-based precision medicine

Mara Pavel-Dinu, Simon Borna, Rosa Bacchetta

Front Genome Ed. 2023; 5: 1114996. Published online 2023 Feb 8. doi: 10.3389/fgeed.2023.1114996

PMCID:: PMC9945114

Abstract Article PDF–1.5M

Select item 98693719.

Case Report: Crossing a rugged road in a primary immune regulatory disorder

Mayla Sgrulletti, Cristina Cifaldi, Silvia Di Cesare, Barbara Kroegler, Elisabetta Del Duca, Valentina Ferradini, Simona Graziani, Mario Bengala, Gigliola Di Matteo, Viviana Moschese

Front Pediatr. 2022; 10: 1055091. Published online 2023 Jan 9. doi: 10.3389/fped.2022.1055091

PMCID:: PMC9869371

Abstract Article PDF–2.7M

Select item 829547010.

Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient

Francesca Conti, Arianna Catelli, Cristina Cifaldi, Lucia Leonardi, Rita Mulè, Marco Fusconi, Vittorio Stefoni, Maria Chiriaco, Beatrice Rivalta, Silvia Di Cesare, Gioacchino Schifino, Fabiana Sbrega, Gigliola Di Matteo, Simona Ferrari, Caterina Cancrini, Andrea Pession

Front Pediatr. 2021; 9: 702546. Published online 2021 Jul 8. doi: 10.3389/fped.2021.702546