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Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.
Peled A, Sarig O, Sun G, Samuelov L, Ma CA, Zhang Y, Dimaggio T, Nelson CG, Stone KD, Freeman AF, Malki L, Vidal LS, Chamarthy LM, Briskin V, Mohamad J, Pavlovsky M, Walter JE, Milner JD, Sprecher E. Peled A, et al. Among authors: freeman af. J Allergy Clin Immunol. 2019 Jan;143(1):173-181.e10. doi: 10.1016/j.jaci.2018.09.002. Epub 2018 Sep 21. J Allergy Clin Immunol. 2019. PMID: 30248356 Clinical Trial.
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome.
Milner JD, Brenchley JM, Laurence A, Freeman AF, Hill BJ, Elias KM, Kanno Y, Spalding C, Elloumi HZ, Paulson ML, Davis J, Hsu A, Asher AI, O'Shea J, Holland SM, Paul WE, Douek DC. Milner JD, et al. Among authors: freeman af. Nature. 2008 Apr 10;452(7188):773-6. doi: 10.1038/nature06764. Epub 2008 Mar 12. Nature. 2008. PMID: 18337720 Free PMC article.
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD. Ombrello MJ, et al. Among authors: freeman af. N Engl J Med. 2012 Jan 26;366(4):330-8. doi: 10.1056/NEJMoa1102140. Epub 2012 Jan 11. N Engl J Med. 2012. PMID: 22236196 Free PMC article.
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM. Uzel G, et al. Among authors: freeman af. J Allergy Clin Immunol. 2013 Jun;131(6):1611-23. doi: 10.1016/j.jaci.2012.11.054. Epub 2013 Mar 25. J Allergy Clin Immunol. 2013. PMID: 23534974 Free PMC article.
Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome.
Freeman AF, Renner ED, Henderson C, Langenbeck A, Olivier KN, Hsu AP, Hagl B, Boos A, Davis J, Marciano BE, Boris L, Welch P, Sawalle-Belohradsky J, Belohradsky BH, Kwong KF, Holland SM. Freeman AF, et al. J Clin Immunol. 2013 Jul;33(5):896-902. doi: 10.1007/s10875-013-9890-5. Epub 2013 Apr 13. J Clin Immunol. 2013. PMID: 23584561
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism.
Hsu AP, Sowerwine KJ, Lawrence MG, Davis J, Henderson CJ, Zarember KA, Garofalo M, Gallin JI, Kuhns DB, Heller T, Milner JD, Puck JM, Freeman AF, Holland SM. Hsu AP, et al. Among authors: freeman af. J Allergy Clin Immunol. 2013 Jun;131(6):1586-93. doi: 10.1016/j.jaci.2013.02.038. Epub 2013 Apr 25. J Allergy Clin Immunol. 2013. PMID: 23623265 Free PMC article.
Peptide library-based evaluation of T-cell receptor breadth detects defects in global and regulatory activation in human immunologic diseases.
Barber JS, Yokomizo LK, Sheikh V, Freeman AF, Garabedian E, van Dijk E, Sokolic R, Candotti F, Weng NP, Sereti I, Milner JD. Barber JS, et al. Among authors: freeman af. Proc Natl Acad Sci U S A. 2013 May 14;110(20):8164-9. doi: 10.1073/pnas.1302103110. Epub 2013 May 1. Proc Natl Acad Sci U S A. 2013. PMID: 23637345 Free PMC article.
Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation.
Siegel AM, Stone KD, Cruse G, Lawrence MG, Olivera A, Jung MY, Barber JS, Freeman AF, Holland SM, O'Brien M, Jones N, Nelson CG, Wisch LB, Kong HH, Desai A, Farber O, Gilfillan AM, Rivera J, Milner JD. Siegel AM, et al. Among authors: freeman af. J Allergy Clin Immunol. 2013 Dec;132(6):1388-96. doi: 10.1016/j.jaci.2013.08.045. Epub 2013 Nov 1. J Allergy Clin Immunol. 2013. PMID: 24184145 Free PMC article.
237 results