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Page 1
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
The phenotype included hypogammaglobulinemia (88.9%), reduced switched memory B cells (60.3%), and respiratory (83%) and gastrointestinal (28.6%) infections, thus characterizing the disorder as primary immunodeficiency. However, the high frequency of autoimmunity (57.4%), …
The phenotype included hypogammaglobulinemia (88.9%), reduced switched memory B cells (60.3%), and respiratory (83%) and gastrointestinal (2 …
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
López-Nevado M, González-Granado LI, Ruiz-García R, Pleguezuelo D, Cabrera-Marante O, Salmón N, Blanco-Lobo P, Domínguez-Pinilla N, Rodríguez-Pena R, Sebastián E, Cruz-Rojo J, Olbrich P, Ruiz-Contreras J, Paz-Artal E, Neth O, Allende LM. López-Nevado M, et al. Front Immunol. 2021 Aug 10;12:671755. doi: 10.3389/fimmu.2021.671755. eCollection 2021. Front Immunol. 2021. PMID: 34447369 Free PMC article.
Primary immune regulatory disorders (PIRD) are associated with autoimmunity, autoinflammation and/or dysregulation of lymphocyte homeostasis. Autoimmune lymphoproliferative syndrome (ALPS) is a PIRD due to an apoptotic defect in Fas-FasL pathway …
Primary immune regulatory disorders (PIRD) are associated with autoimmunity, autoinflammation and/or dysregulation …
Hereditary Autoinflammatory Disorders: Recognition and Treatment.
Broderick L. Broderick L. Immunol Allergy Clin North Am. 2019 Feb;39(1):13-29. doi: 10.1016/j.iac.2018.08.004. Epub 2018 Nov 1. Immunol Allergy Clin North Am. 2019. PMID: 30466770 Review.
The autoinflammatory diseases encompass approximately 30 monogenic disorders in which inborn errors in the innate immune system lead to episodic systemic inflammation. Largely mediated by dysregulation of myeloid cells, interleukin (IL)-1beta, type I interferon, and …
The autoinflammatory diseases encompass approximately 30 monogenic disorders in which inborn errors in the innate immune system lead …
Targeted Treatment of Diseases of Immune Dysregulation.
Mohan S. Mohan S. Rheum Dis Clin North Am. 2023 Nov;49(4):913-929. doi: 10.1016/j.rdc.2023.07.002. Epub 2023 Aug 23. Rheum Dis Clin North Am. 2023. PMID: 37821203 Review.
Increasing molecular knowledge of autoinflammatory and autoimmune disorders has enabled more targeted treatment of these conditions. ...Interferonopathies and some disorders with overlap features of autoimmunity and autoinflammation may improve with Janus kin …
Increasing molecular knowledge of autoinflammatory and autoimmune disorders has enabled more targeted treatment of these conditions. …
The Treatment of Primary Immune Deficiencies: Lessons Learned and Future Opportunities.
Paris K, Wall LA. Paris K, et al. Clin Rev Allergy Immunol. 2023 Aug;65(1):19-30. doi: 10.1007/s12016-022-08950-0. Epub 2022 Jul 1. Clin Rev Allergy Immunol. 2023. PMID: 35776401 Free PMC article. Review.
Primary immunodeficiency is a group of disorders associated with susceptibility to infectious agents and the development of various comorbidities. Many primary immunodeficiencies are complicated by immune dysregulation, autoinflammation, or autoimmunity …
Primary immunodeficiency is a group of disorders associated with susceptibility to infectious agents and the development of various comorbid …
HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions.
Cook S, Lenardo MJ, Freeman AF. Cook S, et al. J Clin Immunol. 2022 Nov;42(8):1583-1592. doi: 10.1007/s10875-022-01327-0. Epub 2022 Jul 22. J Clin Immunol. 2022. PMID: 35869404 Free PMC article. Review.
Cells of the innate and adaptive immune systems depend on proper actin dynamics to control cell behavior for effective immune responses. Dysregulated actin networks are known to play a pathogenic role in an increasing number of inborn errors of immunity …
Cells of the innate and adaptive immune systems depend on proper actin dynamics to control cell behavior for effective immune …
Regulating against the dysregulation: new treatment options in autoinflammation.
Kallinich T. Kallinich T. Semin Immunopathol. 2015 Jul;37(4):429-37. doi: 10.1007/s00281-015-0501-9. Epub 2015 Jun 10. Semin Immunopathol. 2015. PMID: 26059720 Review.
In autoinflammatory disorders, dysregulation of the innate immune response leads to an excessive cytokine release. ...Although these progresses were made in the last years, there are still numerous challenges in order to improve drug therapy in autoinflamm …
In autoinflammatory disorders, dysregulation of the innate immune response leads to an excessive cytokine release. ...Although …
Clinical utility of measuring CD4(+) T follicular cells in patients with immune dysregulation.
LaBere B, Nguyen AA, Habiballah SB, Elkins M, Imperial J, Li B, Devana S, Timilsina S, Stubbs SB, Joerger J, Chou J, Platt CD. LaBere B, et al. J Autoimmun. 2023 Nov;140:103088. doi: 10.1016/j.jaut.2023.103088. Epub 2023 Aug 5. J Autoimmun. 2023. PMID: 37549449
Mechanistic studies of autoimmune disorders have identified circulating T follicular helper (cTfh) cells as drivers of autoimmunity. ...This threshold had a sensitivity of 86% and specificity of 100% for active autoimmunity and normalized with effective treat …
Mechanistic studies of autoimmune disorders have identified circulating T follicular helper (cTfh) cells as drivers of autoimmunit …