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Newborn screening for SCID and severe T lymphocytopenia in Europe.
Blom M, Soomann M, Soler-Palacín P, Šedivá A, Stray-Pedersen A, Zetterström R, Speckmann C, Gennery AR, van der Burg M. Blom M, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2024 Nov 6:S0091-6749(24)01162-X. doi: 10.1016/j.jaci.2024.10.018. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39510364 Free article. Review.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, Schim van der Loeff I, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Esteki MZ, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk FL, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AJ, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SSV, Hoischen A. van der Made CI, et al. Among authors: van der burg m. Am J Hum Genet. 2024 Apr 4;111(4):791-804. doi: 10.1016/j.ajhg.2024.02.013. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503300 Free PMC article.
Primary Immune Deficiency Treatment Consortium (PIDTC) report.
Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, Cunningham-Rundles C, Dinauer MC, Dvorak CC, Filipovich AH, Fleisher TA, Bobby Gaspar H, Gungor T, Haddad E, Hovermale E, Huang F, Hurley A, Hurley M, Iyengar S, Kang EM, Logan BR, Long-Boyle JR, Malech HL, McGhee SA, Modell F, Modell V, Ochs HD, O'Reilly RJ, Parkman R, Rawlings DJ, Routes JM, Shearer WT, Small TN, Smith H, Sullivan KE, Szabolcs P, Thrasher A, Torgerson TR, Veys P, Weinberg K, Zuniga-Pflucker JC; workshop participants. Griffith LM, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2014 Feb;133(2):335-47. doi: 10.1016/j.jaci.2013.07.052. Epub 2013 Oct 15. J Allergy Clin Immunol. 2014. PMID: 24139498 Free PMC article.
Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.
Dabrowska-Leonik N, Pastorczak AK, Bąbol-Pokora K, Bernat-Sitarz K, Piątosa B, Heropolitańska-Pliszka E, Kacprzak MM, Kalwak K, Gul K, van der Burg M, Ussowicz M, Pac M. Dabrowska-Leonik N, et al. Among authors: van der burg m. Front Immunol. 2022 Oct 19;13:1033338. doi: 10.3389/fimmu.2022.1033338. eCollection 2022. Front Immunol. 2022. PMID: 36341401 Free PMC article.
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's tyrosine kinase case-study.
Del Pino-Molina L, Bravo Gallego LY, Soto Serrano Y, Reche Yebra K, Marty Lobo J, González Martínez B, Bravo García-Morato M, Rodríguez Pena R, van der Burg M, López Granados E. Del Pino-Molina L, et al. Among authors: van der burg m. Front Immunol. 2023 Apr 24;14:1095123. doi: 10.3389/fimmu.2023.1095123. eCollection 2023. Front Immunol. 2023. PMID: 37197664 Free PMC article.
Orientation Regulation of Class-switch Recombination in Human B Cells.
Du L, Oksenych V, Wan H, Ye X, Dong J, Ye AY, Abolhassani H, Vlachiotis S, Zhang X, de la Rosa K, Hammarström L, van der Burg M, Alt FW, Pan-Hammarström Q. Du L, et al. Among authors: van der burg m. J Immunol. 2024 Oct 15;213(8):1093-1104. doi: 10.4049/jimmunol.2300842. J Immunol. 2024. PMID: 39248600 Free PMC article.
450 results