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Page 1
Severe combined immunodeficiency diagnosis and genetic defects.
Aranda CS, Gouveia-Pereira MP, da Silva CJM, Rizzo MCFV, Ishizuka E, de Oliveira EB, Condino-Neto A. Aranda CS, et al. Immunol Rev. 2024 Mar;322(1):138-147. doi: 10.1111/imr.13310. Epub 2024 Jan 29. Immunol Rev. 2024. PMID: 38287514 Review.
SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.
Chan YH, Lundberg V, Le Pen J, Yuan J, Lee D, Pinci F, Volpi S, Nakajima K, Bondet V, Åkesson S, Khobrekar NV, Bodansky A, Du L, Melander T, Mariaggi AA, Seeleuthner Y, Saleh TS, Chakravarty D, Marits P, Dobbs K, Vonlanthen S, Hennings V, Thörn K, Rinchai D, Bizien L, Chaldebas M, Sobh A, Özçelik T, Keles S, AlKhater SA, Prando C, Meyts I; COVID Human Genetic Effort; Wilson MR, Rosain J, Jouanguy E, Aubart M, Abel L, Mogensen TH, Pan-Hammarström Q, Gao D, Duffy D, Cobat A, Berg S, Notarangelo LD, Harschnitz O, Rice CM, Studer L, Casanova JL, Ekwall O, Zhang SY. Chan YH, et al. J Exp Med. 2024 Sep 2;221(9):e20231725. doi: 10.1084/jem.20231725. Epub 2024 Jul 18. J Exp Med. 2024. PMID: 39023559 Free PMC article.
Inborn errors of immunity: A field without frontiers.
Bucciol G, Delafontaine S, Meyts I, Poli C. Bucciol G, et al. Immunol Rev. 2024 Mar;322(1):15-27. doi: 10.1111/imr.13297. Epub 2023 Dec 8. Immunol Rev. 2024. PMID: 38062988 Review.
Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.
Ospina Cardona D, Rodriguez-Pinto I, Iosim S, Bonet N, Mensa-Vilaro A, Wong MK, Ho G, Tormo M, Yagüe J, Shon W, Wallace DJ, Casals F, Beck DB, Abuav R, Arostegui JI. Ospina Cardona D, et al. Rheumatology (Oxford). 2024 Oct 1;63(10):2897-2902. doi: 10.1093/rheumatology/keae201. Rheumatology (Oxford). 2024. PMID: 38552317 Free PMC article.
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
Cools M, Grijp C, Neirinck J, Tavernier SJ, Schelstraete P, Van De Velde J, Morbée L, De Baere E, Bonroy C, van Bever Y, Bruggenwirth H, Vermont C, Hannema SE, De Rijke Y, Abdulhadi-Atwan M, Zangen D, Verdin H, Haerynck F. Cools M, et al. Eur J Endocrinol. 2024 Jan 3;190(1):34-43. doi: 10.1093/ejendo/lvad174. Eur J Endocrinol. 2024. PMID: 38128121
16 results