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MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks.
Mathias B, O'Leary D, Saucier N, Ahmad F, White LS, Russell L, Shinawi M, Smith MJ, Abraham RS, Cooper MA, Kitcharoensakkul M, Green AM, Bednarski JJ. Mathias B, et al. Among authors: abraham rs. J Allergy Clin Immunol. 2024 Apr;153(4):1113-1124.e7. doi: 10.1016/j.jaci.2023.12.001. Epub 2023 Dec 6. J Allergy Clin Immunol. 2024. PMID: 38065233 Free article.
WILD syndrome is GATA2 deficiency: A novel deletion in the GATA2 gene.
Dorn JM, Patnaik MS, Van Hee M, Smith MJ, Lagerstedt SA, Newman CC, Boyce TG, Abraham RS. Dorn JM, et al. Among authors: abraham rs. J Allergy Clin Immunol Pract. 2017 Jul-Aug;5(4):1149-1152.e1. doi: 10.1016/j.jaip.2017.02.010. Epub 2017 Mar 31. J Allergy Clin Immunol Pract. 2017. PMID: 28373026 No abstract available.
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW. Cousin MA, et al. Among authors: abraham rs. J Clin Immunol. 2018 Apr;38(3):307-319. doi: 10.1007/s10875-018-0499-6. Epub 2018 Apr 18. J Clin Immunol. 2018. PMID: 29671115
Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.
Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Bier J, et al. Among authors: abraham rs. J Allergy Clin Immunol. 2019 Jul;144(1):236-253. doi: 10.1016/j.jaci.2019.01.033. Epub 2019 Feb 6. J Allergy Clin Immunol. 2019. PMID: 30738173 Free PMC article.
Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID).
Barmettler S, Coffey K, Smith MJ, Chong HJ, Pozos TC, Seroogy CM, Walter J, Abraham RS. Barmettler S, et al. Among authors: abraham rs. J Allergy Clin Immunol Pract. 2021 Feb;9(2):723-732.e3. doi: 10.1016/j.jaip.2020.08.008. Epub 2020 Aug 17. J Allergy Clin Immunol Pract. 2021. PMID: 32818697
The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.
Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. Dvorak CC, et al. Among authors: abraham rs. J Allergy Clin Immunol. 2023 Feb;151(2):547-555.e5. doi: 10.1016/j.jaci.2022.10.021. Epub 2022 Nov 28. J Allergy Clin Immunol. 2023. PMID: 36456360 Free PMC article.
Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.
Abraham RS, Basu A, Heimall JR, Dunn E, Yip A, Kapadia M, Kapoor N, Satter LF, Buckley R, O'Reilly R, Cuvelier GDE, Chandra S, Bednarski J, Chaudhury S, Moore TB, Haines H, Dávila Saldaña BJ, Chellapandian D, Rayes A, Chen K, Caywood E, Chandrakasan S, Lugt MTV, Ebens C, Teira P, Shereck E, Miller H, Aquino V, Eissa H, Yu LC, Gillio A, Madden L, Knutsen A, Shah AJ, DeSantes K, Barnum J, Broglie L, Joshi AY, Kleiner G, Dara J, Prockop S, Martinez C, Mousallem T, Oved J, Burroughs L, Marsh R, Torgerson TR, Leiding JW, Pai SY, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Cowan MJ, Puck J, Dvorak CC, Haddad E. Abraham RS, et al. Clin Immunol. 2024 Apr;261:109942. doi: 10.1016/j.clim.2024.109942. Epub 2024 Feb 15. Clin Immunol. 2024. PMID: 38367737
146 results