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Year Number of Results
2020 3
2021 9
2022 11
2023 10
2024 4

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33 results

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Page 1
A randomized, placebo-controlled phase 3 trial of the PI3Kdelta inhibitor leniolisib for activated PI3Kdelta syndrome.
Rao VK, Webster S, Šedivá A, Plebani A, Schuetz C, Shcherbina A, Conlon N, Coulter T, Dalm VA, Trizzino A, Zharankova Y, Kulm E, Körholz J, Lougaris V, Rodina Y, Radford K, Bradt J, Kucher K, Relan A, Holland SM, Lenardo MJ, Uzel G. Rao VK, et al. Blood. 2023 Mar 2;141(9):971-983. doi: 10.1182/blood.2022018546. Blood. 2023. PMID: 36399712 Free PMC article. Clinical Trial.
Activated phosphoinositide 3-kinase delta (PI3Kdelta) syndrome (APDS) is an inborn error of immunity with clinical manifestations including infections, lymphoproliferation, autoimmunity, enteropathy, bronchiectasis, increased risk of lymphoma, a …
Activated phosphoinositide 3-kinase delta (PI3Kdelta) syndrome (APDS) is an inborn error of immunity with cli …
Gastrointestinal and Hepatic Manifestations of Chronic Granulomatous Disease.
Yang AH, Sullivan B, Zerbe CS, De Ravin SS, Blakely AM, Quezado MM, Marciano BE, Marko J, Ling A, Kleiner DE, Gallin JI, Malech HL, Holland SM, Heller T. Yang AH, et al. J Allergy Clin Immunol Pract. 2023 May;11(5):1401-1416. doi: 10.1016/j.jaip.2022.12.039. Epub 2023 Jan 13. J Allergy Clin Immunol Pract. 2023. PMID: 36646382 Review.
Chronic granulomatous disease (CGD) is a rare inborn error of immunity, resulting from a defect in nicotinamide adenine dinucleotide phosphate oxidation and decreased production of phagocyte reactive oxygen species. The main clinical manifestati …
Chronic granulomatous disease (CGD) is a rare inborn error of immunity, resulting from a defect in nicotinamide …
Genetic susceptibility to viral disease in humans.
Mogensen TH. Mogensen TH. Clin Microbiol Infect. 2022 Nov;28(11):1411-1416. doi: 10.1016/j.cmi.2022.02.023. Epub 2022 Feb 24. Clin Microbiol Infect. 2022. PMID: 35218976 Free article. Review.
OBJECTIVES: Herein, the current knowledge on major IEIs predisposing to severe or chronic viral infections are described and discussed, and the clinical implications of these findings for individualized prophylaxis and treatment are outlined. ...IMPLICATIONS: Past and pres …
OBJECTIVES: Herein, the current knowledge on major IEIs predisposing to severe or chronic viral infections are described and discussed, and …
Secondary rituximab-associated versus primary immunodeficiencies: The enigmatic border.
Ottaviano G, Sgrulletti M, Moschese V. Ottaviano G, et al. Eur J Immunol. 2022 Oct;52(10):1572-1580. doi: 10.1002/eji.202149667. Epub 2022 Aug 10. Eur J Immunol. 2022. PMID: 35892275 Free article. Review.
Although these patients were previously regarded as affected by secondary/iatrogenic immunodeficiency, atypical clinical and immunological manifestations (e.g., severe or opportunistic infections; prolonged B-cell aplasia) raise concerns of delayed manifestations of geneti …
Although these patients were previously regarded as affected by secondary/iatrogenic immunodeficiency, atypical clinical and immunolo …
Quercetin ameliorates XIAP deficiency-associated hyperinflammation.
Chiang SCC, Owsley E, Panchal N, Chaturvedi V, Terrell CE, Jordan MB, Mehta PA, Davies SM, Akeno N, Booth C, Marsh RA. Chiang SCC, et al. Blood. 2022 Aug 18;140(7):706-715. doi: 10.1182/blood.2021014335. Blood. 2022. PMID: 35687753 Free article.
XIAP (X-linked inhibitor of apoptosis) deficiency is a rare inborn error of immunity. XIAP deficiency causes hyperinflammatory disease manifestations due to dysregulated TNF (tumor necrosis factor)-receptor signaling and NLRP3 (NOD- [nucleotide-binding …
XIAP (X-linked inhibitor of apoptosis) deficiency is a rare inborn error of immunity. XIAP deficiency causes hyp …
Human genetics of SARS-CoV-2 infection and critical COVID-19.
Mogensen TH. Mogensen TH. Clin Microbiol Infect. 2022 Nov;28(11):1417-1421. doi: 10.1016/j.cmi.2022.02.022. Epub 2022 Feb 24. Clin Microbiol Infect. 2022. PMID: 35218979 Free PMC article. Review.
OBJECTIVES: In this review, the current knowledge on IEIs underlying critical COVID-19 is presented, and the clinical implications of these findings for individualized prophylaxis and treatment are outlined. ...IMPLICATIONS: Uncovering IEIs underlying critical COVID-19 or …
OBJECTIVES: In this review, the current knowledge on IEIs underlying critical COVID-19 is presented, and the clinical implications of …
Modulating the PI3K Signalling Pathway in Activated PI3K Delta Syndrome: a Clinical Perspective.
Berglund LJ. Berglund LJ. J Clin Immunol. 2023 Dec 27;44(1):34. doi: 10.1007/s10875-023-01626-0. J Clin Immunol. 2023. PMID: 38148368 Free PMC article. Review.
Activated phosphoinositide-3-kinase (PI3K) delta syndrome (APDS) is an inborn error of immunity characterised by immune dysregulation. Since the discovery of genetic mutations resulting in PI3Kdelta overactivation, treatment of APDS patients has begun …
Activated phosphoinositide-3-kinase (PI3K) delta syndrome (APDS) is an inborn error of immunity characterised by …
A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease.
Chauvin SD, Price S, Zou J, Hunsberger S, Brofferio A, Matthews H, Similuk M, Rosenzweig SD, Su HC, Cohen JI, Lenardo MJ, Ravell JC. Chauvin SD, et al. J Clin Immunol. 2022 Jan;42(1):108-118. doi: 10.1007/s10875-021-01137-w. Epub 2021 Oct 16. J Clin Immunol. 2022. PMID: 34655400 Free PMC article. Clinical Trial.
X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus (EBV) infection and N-linked glycosylation defect (XMEN) disease is an inborn error of immunity caused by loss-of-function mutations in the magnesium transporter 1 (MAGT1) ge …
X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus (EBV) infection and N-linked glycosylation defect (XMEN) disea …
Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency.
Lanz AL, Riester M, Peters P, Schwerd T, Lurz E, Hajji MS, Rohlfs M, Ley-Zaporozhan J, Walz C, Kotlarz D, Klein C, Albert MH, Hauck F. Lanz AL, et al. Clin Immunol. 2021 Aug;229:108779. doi: 10.1016/j.clim.2021.108779. Epub 2021 Jun 8. Clin Immunol. 2021. PMID: 34116213
CTLA4-haploinsufficiency is a complex disease of immune dysregulation presenting with a broad spectrum of clinical manifestations. CTLA4-Fc fusion proteins such as abatacept have been described to alleviate immune dysregulation in several adult cases of CTLA4-haploinsuffic …
CTLA4-haploinsufficiency is a complex disease of immune dysregulation presenting with a broad spectrum of clinical manifestations. CT …
Interim analysis: Open-label extension study of leniolisib for patients with APDS.
Rao VK, Kulm E, Šedivá A, Plebani A, Schuetz C, Shcherbina A, Dalm VA, Trizzino A, Zharankova Y, Webster S, Orpia A, Körholz J, Lougaris V, Rodina Y, Radford K, Bradt J, Relan A, Holland SM, Lenardo MJ, Uzel G. Rao VK, et al. J Allergy Clin Immunol. 2024 Jan;153(1):265-274.e9. doi: 10.1016/j.jaci.2023.09.032. Epub 2023 Oct 4. J Allergy Clin Immunol. 2024. PMID: 37797893 Free article.
BACKGROUND: Activated phosphoinositide 3-kinase delta (PI3Kdelta) syndrome (APDS; or p110delta-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency) is an inborn error of immunity caused by PI3Kdelta hyperactivity. Resu …
BACKGROUND: Activated phosphoinositide 3-kinase delta (PI3Kdelta) syndrome (APDS; or p110delta-activating mutations causing senescent T cell …
33 results