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Page 1
Matched related and unrelated donor hematopoietic stem cell transplantation for DOCK8 deficiency.
Cuellar-Rodriguez J, Freeman AF, Grossman J, Su H, Parta M, Murdock H, Shah N, Bollard C, Kong HH, Moutsopoulos N, Stone K, Gea-Banacloche J, Holland SM, Hickstein DD. Cuellar-Rodriguez J, et al. Among authors: stone k. Biol Blood Marrow Transplant. 2015 Jun;21(6):1037-45. doi: 10.1016/j.bbmt.2015.01.022. Epub 2015 Jan 27. Biol Blood Marrow Transplant. 2015. PMID: 25636378 Free PMC article. Clinical Trial.
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. 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.
Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.
Carlson RJ, Bond MR, Hutchins S, Brown Y, Wolfe LA, Lam C, Nelson C, DiMaggio T, Jones N, Rosenzweig SD, Stone KD, Freeman AF, Holland SM, Hanover JA, Milner JD, Lyons JJ. Carlson RJ, et al. J Allergy Clin Immunol. 2017 Jul;140(1):291-294.e4. doi: 10.1016/j.jaci.2016.12.951. Epub 2017 Jan 4. J Allergy Clin Immunol. 2017. PMID: 28063873 Free PMC article. No abstract available.
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD. Zhang Y, et al. J Allergy Clin Immunol. 2014 May;133(5):1400-9, 1409.e1-5. doi: 10.1016/j.jaci.2014.02.013. Epub 2014 Feb 28. J Allergy Clin Immunol. 2014. PMID: 24589341 Free PMC article. Clinical Trial.
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Ferre EM, Rose SR, Rosenzweig SD, Burbelo PD, Romito KR, Niemela JE, Rosen LB, Break TJ, Gu W, Hunsberger S, Browne SK, Hsu AP, Rampertaap S, Swamydas M, Collar AL, Kong HH, Lee CR, Chascsa D, Simcox T, Pham A, Bondici A, Natarajan M, Monsale J, Kleiner DE, Quezado M, Alevizos I, Moutsopoulos NM, Yockey L, Frein C, Soldatos A, Calvo KR, Adjemian J, Similuk MN, Lang DM, Stone KD, Uzel G, Kopp JB, Bishop RJ, Holland SM, Olivier KN, Fleisher TA, Heller T, Winer KK, Lionakis MS. Ferre EM, et al. Among authors: stone kd. JCI Insight. 2016 Aug 18;1(13):e88782. doi: 10.1172/jci.insight.88782. JCI Insight. 2016. PMID: 27588307 Free PMC article.
ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.
Lyons JJ, Liu Y, Ma CA, Yu X, O'Connell MP, Lawrence MG, Zhang Y, Karpe K, Zhao M, Siegel AM, Stone KD, Nelson C, Jones N, DiMaggio T, Darnell DN, Mendoza-Caamal E, Orozco L, Hughes JD, McElwee J, Hohman RJ, Frischmeyer-Guerrerio PA, Rothenberg ME, Freeman AF, Holland SM, Milner JD. Lyons JJ, et al. Among authors: stone kd. J Exp Med. 2017 Mar 6;214(3):669-680. doi: 10.1084/jem.20161435. Epub 2017 Jan 26. J Exp Med. 2017. PMID: 28126831 Free PMC article.
GATA-2-deficient mast cells limit IgE-mediated immediate hypersensitivity reactions in human subjects.
Desai A, Sowerwine K, Liu Y, Lawrence MG, Chovanec J, Hsu AP, O'Connell MP, Kim J, Boris L, Jones N, Wisch L, Eisch RR, Carter MC, Komarow HD, Zerbe C, Milner JD, Maric I, Sun X, Lee CR, Tunc I, Pirooznia M, Stone KD, Holland SM, Metcalfe DD, Lyons JJ. Desai A, et al. Among authors: stone kd. J Allergy Clin Immunol. 2019 Aug;144(2):613-617.e14. doi: 10.1016/j.jaci.2019.05.007. Epub 2019 May 15. J Allergy Clin Immunol. 2019. PMID: 31102699 No abstract available.
GATA3 haploinsufficiency does not block allergic sensitization or atopic disease.
Lawrence MG, Leiding JW, Lyons JJ, Hsu AP, Nelson CC, Jones N, Fitzgerald A, Chien WW, Workman L, Platts-Mills TA, Brewer C, Gafni RI, Stone KD, Milner JD, Holland SM. Lawrence MG, et al. J Allergy Clin Immunol. 2016 Feb;137(2):627-629.e2. doi: 10.1016/j.jaci.2015.06.041. Epub 2015 Aug 15. J Allergy Clin Immunol. 2016. PMID: 26282285 Free PMC article. No abstract available.
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL. Dorjbal B, et al. Among authors: stone kd. J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28. J Allergy Clin Immunol. 2019. PMID: 30170123 Free PMC article.
1,275 results