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Page 1
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party. Thalhammer J, et al. J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23. J Allergy Clin Immunol. 2021. PMID: 33895260 Free article.
Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.
Ogishi M, Arias AA, Yang R, Han JE, Zhang P, Rinchai D, Halpern J, Mulwa J, Keating N, Chrabieh M, Lainé C, Seeleuthner Y, Ramírez-Alejo N, Nekooie-Marnany N, Guennoun A, Muller-Fleckenstein I, Fleckenstein B, Kilic SS, Minegishi Y, Ehl S, Kaiser-Labusch P, Kendir-Demirkol Y, Rozenberg F, Errami A, Zhang SY, Zhang Q, Bohlen J, Philippot Q, Puel A, Jouanguy E, Pourmoghaddas Z, Bakhtiar S, Willasch AM, Horneff G, Llanora G, Shek LP, Chai LYA, Tay SH, Rahimi HH, Mahdaviani SA, Nepesov S, Bousfiha AA, Erdeniz EH, Karbuz A, Marr N, Navarrete C, Adeli M, Hammarstrom L, Abolhassani H, Parvaneh N, Al Muhsen S, Alosaimi MF, Alsohime F, Nourizadeh M, Moin M, Arnaout R, Alshareef S, El-Baghdadi J, Genel F, Sherkat R, Kiykim A, Yücel E, Keles S, Bustamante J, Abel L, Casanova JL, Boisson-Dupuis S. Ogishi M, et al. Among authors: kaiser labusch p. J Exp Med. 2022 Oct 3;219(10):e20220094. doi: 10.1084/jem.20220094. Epub 2022 Sep 12. J Exp Med. 2022. PMID: 36094518 Free PMC article.
The expansion of human T-bethighCD21low B cells is T cell dependent.
Keller B, Strohmeier V, Harder I, Unger S, Payne KJ, Andrieux G, Boerries M, Felixberger PT, Landry JJM, Nieters A, Rensing-Ehl A, Salzer U, Frede N, Usadel S, Elling R, Speckmann C, Hainmann I, Ralph E, Gilmour K, Wentink MWJ, van der Burg M, Kuehn HS, Rosenzweig SD, Kölsch U, von Bernuth H, Kaiser-Labusch P, Gothe F, Hambleton S, Vlagea AD, Garcia Garcia A, Alsina L, Markelj G, Avcin T, Vasconcelos J, Guedes M, Ding JY, Ku CL, Shadur B, Avery DT, Venhoff N, Thiel J, Becker H, Erazo-Borrás L, Trujillo-Vargas CM, Franco JL, Fieschi C, Okada S, Gray PE, Uzel G, Casanova JL, Fliegauf M, Grimbacher B, Eibel H, Ehl S, Voll RE, Rizzi M, Stepensky P, Benes V, Ma CS, Bossen C, Tangye SG, Warnatz K. Keller B, et al. Among authors: kaiser labusch p. Sci Immunol. 2021 Oct 15;6(64):eabh0891. doi: 10.1126/sciimmunol.abh0891. Epub 2021 Oct 8. Sci Immunol. 2021. PMID: 34623902
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S; ALPID study group. Hägele P, et al. Lancet Haematol. 2024 Feb;11(2):e114-e126. doi: 10.1016/S2352-3026(23)00362-9. Lancet Haematol. 2024. PMID: 38302222
Antiviral Treatment and Risk of Hearing Loss in Asymptomatic and Mild Symptomatic Infants With Congenital Cytomegalovirus.
Villaverde S, Pedrero-Tomé R, Papaevangelou V, Syridou G, Karagiannidou S, Lyall H, Payne H, Frick MA, Soler-Palacín P, Baquero-Artigao F, Rodríguez-Molino P, Fortuny-Guasch C, Rios-Barnés M, Sánchez-Mateos M, Saavedra-Lozano J, Bringué X, Moliner E, Castells L, Muga O, Vives-Oños I, Gkentzi D, Lombardi G, Tagarro A, Colino E, Couceiro JA, Rojo P, de Vergas J, Blázquez-Gamero D; cCMVnet Registry Study Group. Villaverde S, et al. Pediatr Infect Dis J. 2025 Mar 1;44(3):239-245. doi: 10.1097/INF.0000000000004583. Epub 2024 Oct 9. Pediatr Infect Dis J. 2025. PMID: 39383383
Prognostic Factors of Late-onset Hearing Loss in Infants With Congenital Cytomegalovirus and Normal Audiologic Assessment at Birth.
Buonsenso D, Pedrero-Tomé R, Raimondi F, Salomé S, Papaevangelou V, Syridou G, Ríos-Barnés M, Fortuny C, Villaverde S, de Vergas J, Baquero-Artigao F, Rodríguez-Molino P, Frick MA, Álvarez-Vallejo B, Saavedra-Lozano J, Fougere Y, Del Valle R, Ara-Montojo F, Foulon I, Mignogna S, Muga Zuriarrain O, Lyall H, Vives-Oñós I, Colino E, Tsiatsiou O, Moliner E, Garofoli F, Cuadrado I, Blázquez-Gamero D; European Registry of Children with Congenital CMV (cCMVnet registry). Buonsenso D, et al. Pediatr Infect Dis J. 2025 Sep 9. doi: 10.1097/INF.0000000000004960. Online ahead of print. Pediatr Infect Dis J. 2025. PMID: 40838764
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