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Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
Huynh A, E Gray P, Sullivan A, Mackie J, Guerin A, Rao G, Pathmanandavel K, Della Mina E, Hollway G, Hobbs M, Enthoven K, O'Young P, McManus S, H Wainwright L, Higgins M, Noon F, Wong M, Bastard P, Zhang Q, Casanova JL, Hsiao KC, Pinzon-Charry A, S Ma C, G Tangye S. Huynh A, et al. Among authors: pinzon charry a. J Clin Immunol. 2024 Sep 19;45(1):11. doi: 10.1007/s10875-024-01801-x. J Clin Immunol. 2024. PMID: 39297999 Free PMC article. No abstract available.
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Perez Lorenzo M, Rackaityte E, Rinchai D, Zhang P, Bizien L, Hancioglu G, Ghillani-Dalbin P, Charuel JL, Philippot Q, Gueye MS, Maglorius Renkilaraj MRL, Ogishi M, Soudée C, Migaud M, Rozenberg F, Momenilandi M, Riller Q, Imberti L, Delmonte OM, Müller G, Keller B, Orrego J, Franco Gallego WA, Rubin T, Emiroglu M, Parvaneh N, Eriksson D, Aranda-Guillen M, Berrios DI, Vong L, Katelaris CH, Mustillo P, Raedler J, Bohlen J, Bengi Celik J, Astudillo C, Winter S; NF-κB Consortium; COVID Human Genetic Effort; McLean C, Guffroy A, DeRisi JL, Yu D, Miller C, Feng Y, Guichard A, Béziat V, Bustamante J, Pan-Hammarström Q, Zhang Y, Rosen LB, Holland SM, Bosticardo M, Kenney H, Castagnoli R, Slade CA, Boztuğ K, Mahlaoui N, Latour S, Abraham RS, Lougaris V, Hauck F, Sediva A, Atschekzei F, Sogkas G, Poli MC, Slatter MA, Palterer B, Keller MD, Pinzon-Charry A, Sullivan A, Droney L, Suan D, Wong M, Kane A, Hu H, Ma C, Grombiříková H, Ciznar P, Dalal I, Aladjidi N, Hie M, Lazaro E, Franco J, Keles S, Malphettes M, Pasquet M, Maccari ME, Meinhardt A, Ikinciogullari A, Shahrooei M, Celmeli F, Frosk P, Goodnow CC, Gray … See abstract for full author list ➔ Le Voyer T, et al. Among authors: pinzon charry a. Nature. 2023 Nov;623(7988):803-813. doi: 10.1038/s41586-023-06717-x. Epub 2023 Nov 8. Nature. 2023. PMID: 37938781 Free PMC article.
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
Huynh A, Gray PE, Sullivan A, Mackie J, Guerin A, Rao G, Pathmanandavel K, Mina ED, Hollway G, Hobbs M, Enthoven K, O'Young P, McManus S, Wainwright LH, Higgins M, Noon F, Wong M, Bastard P, Zhang Q, Casanova JL, Hsiao KC, Pinzon-Charry A, Ma CS, Tangye SG. Huynh A, et al. Among authors: pinzon charry a. J Clin Immunol. 2024 Aug 5;44(8):170. doi: 10.1007/s10875-024-01774-x. J Clin Immunol. 2024. PMID: 39098944 Free PMC article. Review.
Testing for specific IgE to food allergen mixes - A rash decision.
Chua M, Nguyen A, Campbell P, Langguth D, Pinzon-Charry A. Chua M, et al. Among authors: pinzon charry a. J Paediatr Child Health. 2024 Oct 29. doi: 10.1111/jpc.16713. Online ahead of print. J Paediatr Child Health. 2024. PMID: 39473135 No abstract available.
Inborn Errors of Immunity in Children With Invasive Pneumococcal Disease: A Multicenter Prospective Study.
Phuong LK, Cheung A, Agrawal R, Butters C, Buttery J, Clark J, Connell T, Curtis N, Daley AJ, Dobinson HC, Frith C, Hameed NS, Hernstadt H, Krieser DM, Loke P, Ojaimi S, McMullan B, Pinzon-Charry A, Sharp EG, Sinnappurajar P, Templeton T, Wen S, Cole T, Gwee A. Phuong LK, et al. Among authors: pinzon charry a. Pediatr Infect Dis J. 2023 Oct 1;42(10):908-913. doi: 10.1097/INF.0000000000004004. Epub 2023 Jul 7. Pediatr Infect Dis J. 2023. PMID: 37463351
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