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Page 1
The HyperPed-COVID international registry: Impact of age of onset, disease presentation and geographical distribution on the final outcome of MIS-C.
Caorsi R, Consolaro A, Speziani C, Sozeri B, Ulu K, Faugier-Fuentes E, Menchaca-Aguayo H, Ozen S, Sener S, Akhter Rahman S, Imnul Islam M, Haerynck F, Simonini G, Mastri MV, Avcin T, Sršen S, de Albuquerque Pedrosa Fernandes T, Stanevicha V, Vojinovic J, Sobh A, Fingerhutova S, Minxova L, Gagro A, Rodrigues Fonseca A, Pandya D, Varbanova B, Sánchez-Manubens J, Ganeva M, Montin D, Boyarchuk O, Minghini A, Bracaglia C, Brogan P, Candotti F, Cattalini M, Meyts I, Minoia F, Taddio A, Wouters C, De Benedetti F, Bovis F, Ravelli A, Ruperto N, Gattorno M; HyperPED-COVID study group; ERN-RITA (European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases); PReS (Pediatric Rheumatology European Society); ESID (European Society for Immunodeficiencies); ISSAID (International Society of Systemic Auto-Inflammatory Diseases) and the; **Paediatric Rheumatology International Trials Organisation (PRINTO); Bilginer Y, Laila K, Islam MM, Meertens B, Hoste L, Dehoorne J, Schelstraete P, Vandekerckhove K, Willems J, Matthijs I, Filocamo E Gisella Beatrice Beretta G, Magalhaes CS, Chubata O, Ricci F, Vukovic A, Temelkova K, Avramovic MZ, Emersic N, Bizjak M, Vese… See abstract for full author list ➔ Caorsi R, et al. Among authors: meyts i. J Autoimmun. 2024 Jul;147:103265. doi: 10.1016/j.jaut.2024.103265. Epub 2024 Jun 4. J Autoimmun. 2024. PMID: 38838452
Autoantibodies against type I IFNs in patients with life-threatening COVID-19.
Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Béziat V, Manry J, Shaw E, Haljasmägi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J; HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19… See abstract for full author list ➔ Bastard P, et al. Science. 2020 Oct 23;370(6515):eabd4585. doi: 10.1126/science.abd4585. Epub 2020 Sep 24. Science. 2020. PMID: 32972996 Free PMC article.
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M, Ehlers L, Van Eynde W, Kars ME, Delafontaine S, Kienapfel V, Dzhus M, Schrijvers R, De Haes P, Struyf S, Bucciol G, Itan Y, Bolze A, Voet A, Hombrouck A, Moens L, Ogunjimi B, Meyts I. Wouters M, et al. Among authors: meyts i. medRxiv [Preprint]. 2024 Dec 11:2024.12.09.24317629. doi: 10.1101/2024.12.09.24317629. medRxiv. 2024. PMID: 39711711 Free PMC article. Preprint.
Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care.
Israni M, Alderson E, Mahlaoui N, Obici L, Rossi-Semerano L, Lachmann H, Avramovič MZ, Guffroy A, Dalm V, Rimmer R, Solis L, Villar C, Gennery AR, Skeffington S, Nordin J, Warnatz K, Korganow AS, Antón J, Cattalini M, Berg S, Soler-Palacin P, Campbell M, Burns SO; ESID Clinical Working Party; ERN RITA Transition Working Group Consortium. Israni M, et al. J Clin Immunol. 2024 Dec 17;45(1):57. doi: 10.1007/s10875-024-01838-y. J Clin Immunol. 2024. PMID: 39690292 Free PMC article.
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F, Le Pen J, de Weerd NA, Moncada-Velez M, Materna M, Lin DC, Milisavljevic B, Vianna F, Bizien L, Lorenzo L, Lecuit M, Pommier JD, Keles S, Ozcelik T, Pedraza-Sanchez S, de Prost N, El Zein L, Hammoud H, Ng LFP, Halwani R, Saheb Sharif-Askari N, Lau YL, Tam AR, Singh N, Bhattad S, Berkun Y, Chantratita W, Aguilar-López R, Shahrooei M; COVID-19 HGE Consortium; SEAe Consortium; Abel L, Bastard P, Jouanguy E, Béziat V, Zhang P, Rice CM, Cobat A, Zhang SY, Hertzog PJ, Casanova JL, Zhang Q. Al Qureshah F, et al. J Exp Med. 2025 Feb 3;222(2):e20241413. doi: 10.1084/jem.20241413. Epub 2024 Dec 16. J Exp Med. 2025. PMID: 39680367 Free PMC article.
A New Severe Congenital Neutropenia Syndrome Associated with Autosomal Recessive COPZ1 Mutations.
Borbaran Bravo N, Deordieva E, Doll L, ElGamacy M, Dannenmann B, Azevedo J, Iannuzzo A, Delafontaine S, Lehners M, Kolodziej MST, Hernandez Alvarez B, Hellmuth AS, Ritter M, Findik B, Zakharova V, Bräuning S, Kandabarau S, Lengerke C, Feil R, Meyts I, Delon J, Templin MF, Sturm M, Rieß O, Zeidler C, Welte K, Shcherbina A, Klimiankou M, Skokowa J. Borbaran Bravo N, et al. Among authors: meyts i. Blood. 2024 Dec 6:blood.2023022576. doi: 10.1182/blood.2023022576. Online ahead of print. Blood. 2024. PMID: 39642330
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9-expressing cells.
Rao G, Mack CD, Nguyen T, Wong N, Payne K, Worley L, Gray PE, Wong M, Hsu P, Stormon MO, Preece K, Suan D, O'Sullivan M, Blincoe AK, Sinclair J, Okada S, Hambleton S, Arkwright PD, Boztug K, Stepensky P, Cooper MA, Bezrodnik L, Nadeau KC, Abolhassani H, Abraham RS, Seppänen MRJ, Béziat V, Bustamante J, Forbes Satter LR, Leiding JW, Meyts I, Jouanguy E, Boisson-Dupuis S, Uzel G, Puel A, Casanova JL, Tangye SG, Ma CS. Rao G, et al. Among authors: meyts i. J Allergy Clin Immunol. 2024 Nov 30:S0091-6749(24)01283-1. doi: 10.1016/j.jaci.2024.11.031. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39622295
Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.
Iannuzzo A, Delafontaine S, El Masri R, Tacine R, Prencipe G, Nishitani-Isa M, van Wijck RTA, Bhuyan F, de Jesus Rasheed AA, Coppola S, van Daele PLA, Insalaco A, Goldbach-Mansky R, Yasumi T, Tartaglia M, Meyts I, Delon J. Iannuzzo A, et al. Among authors: meyts i. Nat Commun. 2024 Nov 16;15(1):9940. doi: 10.1038/s41467-024-54294-y. Nat Commun. 2024. PMID: 39550374 Free PMC article.
European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia.
Kreins AY, Dhalla F, Flinn AM, Howley E, Ekwall O, Villa A, Staal FJT, Anderson G, Gennery AR, Holländer GA, Davies EG; European Society for Immunodeficiencies Clinical Working Party. Kreins AY, et al. J Allergy Clin Immunol. 2024 Dec;154(6):1391-1408. doi: 10.1016/j.jaci.2024.07.031. Epub 2024 Sep 18. J Allergy Clin Immunol. 2024. PMID: 39303894 Free article. Review.
259 results