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Page 1
Inborn errors of immunity: manifestation, treatment, and outcome - an ESID registry 1994-2024 report on 30,628 patients.
Kindle G, Alligon M, Albert MH, Buckland M, Edgar JD, Gathmann B, Ghosh S, Gkantaras A, Nieters A, Pignata C, Robinson P, Rusch S, Schuetz C, Sharapova S, Shillitoe B, Candotti F, Cant AJ, Casanova JL, Etzioni A, Fischer A, Meyts I, Notarangelo LD, Pergent M, Smith CIE; ESID Registry Working Party; Hammarström L, Grimbacher B, Seppänen M, Mahlaoui N, Ehl S, Seidel MG. Kindle G, et al. Among authors: notarangelo ld. medRxiv [Preprint]. 2025 Apr 16:2025.02.20.25322586. doi: 10.1101/2025.02.20.25322586. medRxiv. 2025. PMID: 40568655 Free PMC article. Preprint.
A novel frameshift mutation in Phosphoinositide 3-kinase regulatory subunit 1 ( PIK3R1 ) causes immunodeficiency and Amyotrophic Lateral Sclerosis (ALS).
Calco B, Sweeney CL, Steiner J, Wang T, Markowitz TE, Paul S, Palicha B, Dinges S, Yoo K, Henderson L, McDonald V, De Ravin SS, Greenberg B, Zerbe CS, Notarangelo LD, Holland SM, Nath A, Safavi F. Calco B, et al. Among authors: notarangelo ld. bioRxiv [Preprint]. 2025 May 28:2025.05.23.655625. doi: 10.1101/2025.05.23.655625. bioRxiv. 2025. PMID: 40568112 Free PMC article. Preprint.
Long-term outcome in Wiskott-Aldrich syndrome and X-linked thrombocytopenia patients: an observational -prospective multi-center study of the Italian Primary Immune Deficiency Network (IPINET).
Soresina A, Rondelli R, Notarangelo LD, Locatelli F, Aiuti A, Biffi A, Rabusin M, Pignata C, Menna G, Prete A, Faraci M, Rovelli A, Conti F, Bertolini P, Azzari C, Cancrini C, Zecca M, Ferrua F, Cicalese MP, Cecere F, Dotta L, Martire B, Giliani S, Moratto D, Mazza C, Plebani A, Notarangelo LD, Pession A, Badolato R, Fulvio F. Soresina A, et al. Among authors: notarangelo ld. EClinicalMedicine. 2025 Jun 9;84:103271. doi: 10.1016/j.eclinm.2025.103271. eCollection 2025 Jun. EClinicalMedicine. 2025. PMID: 40547444 Free PMC article.
Human LY9 governs CD4+ T cell IFN-γ immunity to Mycobacterium tuberculosis.
Ogishi M, Puchan J, Yang R, Arias AA, Han JE, Nguyen T, Gutiérrez-Cózar R, Conil C, Seeleuthner Y, Rinchai D, Zhang P, Ponsin K, Chaldebas M, Feng Y, Neehus AL, Delmonte OM, Khan T, Landegren N, Eriksson D, Bohlen J, Peel JN, Fagniez I, Pelham SJ, Lei WT, Chrabieh M, Laine C, Ouair H, Benhsaien I, Abid A, Abderrhamani Ghorfi I, Souhi H, Ouazzani H, Aniss R, Riminton DS, Kämpe O, Turvey SE, Marr N, Notarangelo LD, Hatipoglu N, Bousfiha A, Ozcelik T, El Baghdadi J, Cobat A, Ma CS, Abel L, Puel A, Bustamante J, Engel P, Gros P, Tangye SG, Sallusto F, Boisson-Dupuis S, Casanova JL. Ogishi M, et al. Among authors: notarangelo ld. Sci Immunol. 2025 May 30;10(107):eads7377. doi: 10.1126/sciimmunol.ads7377. Epub 2025 May 30. Sci Immunol. 2025. PMID: 40446017
A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.
Vaseghi-Shanjani M, Sharma M, Yousefi P, Samra S, Laverty KU, Jolma A, Razavi R, Yang AHW, Albu M, Golding L, Lee AF, Tan R, Richmond PA, Bosticardo M, Rayment JH, Yang CL, Hildebrand KJ, Brager R, Demos MK, Lau YL, Notarangelo LD, Hughes TR, Biggs CM, Turvey SE. Vaseghi-Shanjani M, et al. Among authors: notarangelo ld. J Exp Med. 2025 Aug 4;222(8):e20241174. doi: 10.1084/jem.20241174. Epub 2025 May 20. J Exp Med. 2025. PMID: 40392549
Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.
Castagnoli R, Pala F, Subramanian P, Oguz C, Schwarz B, Lim AI, Burns AS, Fontana E, Bosticardo M, Corsino C, Angelova A, Delmonte OM, Kenney H, Riley D, Smith G, Ott de Bruin L, Oikonomou V, Dos Santos Dias L, Fink D, Bohrnsen E, Kimzey CD, Marseglia GL, Alva-Lozada G, Bergerson JRE, Brett A, Brigatti KW, Dimitrova D, Dutmer CM, Freeman AF, Ale H, Holland SM, Licciardi F, Pasic S, Poskitt LE, Potts DE, Dasso JF, Sharapova SO, Strauss KA, Ward BR, Yilmaz M, Kuhns DB, Lionakis MS, Daley SR, Kong HH, Segre JA, Villa A, Pittaluga S, Walter JE, Vujkovic-Cvijin I, Belkaid Y, Notarangelo LD. Castagnoli R, et al. Among authors: notarangelo ld. J Exp Med. 2025 Aug 4;222(8):e20241993. doi: 10.1084/jem.20241993. Epub 2025 May 2. J Exp Med. 2025. PMID: 40314722
Underlying disease is the main risk factor in post-splenectomy complication risk: Data from a national database.
Casale M, Colombatti R, Balocco M, Corti P, Barella S, Graziadei G, Farinasso L, Mina T, Cesaro S, Casini T, Giona F, Ladogana S, Pugliese P, Notarangelo LD, Sau A, Ferrero S, Palazzi G, Russo G, Lazzareschi I, Serra M, Campisi S, Boscarol G, Facchini E, Baronci C, Putti MC, Roberti D, Manilia M, Lazzarino AI, Forni GL, Perrotta S; Italian Network of Asplenia. Casale M, et al. Among authors: notarangelo ld. Br J Haematol. 2025 Jun;206(6):1811-1821. doi: 10.1111/bjh.20114. Epub 2025 Apr 29. Br J Haematol. 2025. PMID: 40296772 Free PMC article.
Prior SARS-CoV-2 infection affects adaptive immune responses to Omicron BA.4/BA.5 mRNA booster.
Wachter BT, Xu Q, Shi L, Burbelo PD, Myint-Hpu K, Schwartzberg PL, Rehman MT, Dewar RL, Boswell KL, Koup RA, Oguz C, Imberti L, Bellusci L, Pourhashemi S, Khurana S, Manthiram K, Notarangelo LD, Delmonte OM. Wachter BT, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2025 Jun;155(6):2038-2051. doi: 10.1016/j.jaci.2025.02.026. Epub 2025 Mar 3. J Allergy Clin Immunol. 2025. PMID: 40044048
A large-scale database of T-cell receptor beta sequences and binding associations from natural and synthetic exposure to SARS-CoV-2.
Nolan S, Vignali M, Klinger M, Dines JN, Kaplan IM, Svejnoha E, Craft T, Boland K, Pesesky MW, Gittelman RM, Snyder TM, Gooley CJ, Semprini S, Cerchione C, Nicolini F, Mazza M, Delmonte OM, Dobbs K, Carreño-Tarragona G, Barrio S, Sambri V, Martinelli G, Goldman JD, Heath JR, Notarangelo LD, Martinez-Lopez J, Howie B, Carlson JM, Robins HS. Nolan S, et al. Among authors: notarangelo ld. Front Immunol. 2025 Feb 17;16:1488851. doi: 10.3389/fimmu.2025.1488851. eCollection 2025. Front Immunol. 2025. PMID: 40034696 Free PMC article.
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2.
Jacovas VC, Zelnick M, McNulty S, Ross JE, Khurana N, Pan X, Nieto A, Martin S, McLean B, Elnagheeb MA, Cowan MJ, Puck JM, Hershfield M, Verbsky J, Walter J, Allenspach E, Chan AY, van Oers NSC, Ghosh R, Piazza M, Yuan B, Notarangelo LD, Johnson BA, Chinn IK. Jacovas VC, et al. Among authors: notarangelo ld. medRxiv [Preprint]. 2025 Feb 13:2025.02.11.25322033. doi: 10.1101/2025.02.11.25322033. medRxiv. 2025. PMID: 39990552 Free PMC article. Preprint.
782 results