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Page 1
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Tangye SG, et al. Among authors: su hc. J Clin Immunol. 2022 Oct;42(7):1473-1507. doi: 10.1007/s10875-022-01289-3. Epub 2022 Jun 24. J Clin Immunol. 2022. PMID: 35748970 Free PMC article.
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. Among authors: su hc. 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.
Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.
Jing H, Zhang Q, Zhang Y, Hill BJ, Dove CG, Gelfand EW, Atkinson TP, Uzel G, Matthews HF, Mustillo PJ, Lewis DB, Kavadas FD, Hanson IC, Kumar AR, Geha RS, Douek DC, Holland SM, Freeman AF, Su HC. Jing H, et al. Among authors: su hc. J Allergy Clin Immunol. 2014 Jun;133(6):1667-75. doi: 10.1016/j.jaci.2014.03.025. Epub 2014 May 3. J Allergy Clin Immunol. 2014. PMID: 24797421 Free PMC article.
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.
Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G. Kuehn HS, et al. Among authors: su hc. Science. 2014 Sep 26;345(6204):1623-1627. doi: 10.1126/science.1255904. Epub 2014 Sep 11. Science. 2014. PMID: 25213377 Free PMC article.
Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.
Tangye SG, Pillay B, Randall KL, Avery DT, Phan TG, Gray P, Ziegler JB, Smart JM, Peake J, Arkwright PD, Hambleton S, Orange J, Goodnow CC, Uzel G, Casanova JL, Lugo Reyes SO, Freeman AF, Su HC, Ma CS. Tangye SG, et al. Among authors: su hc. J Allergy Clin Immunol. 2017 Mar;139(3):933-949. doi: 10.1016/j.jaci.2016.07.016. Epub 2016 Aug 20. J Allergy Clin Immunol. 2017. PMID: 27554822 Free PMC article.
Haploidentical related donor hematopoietic stem cell transplantation with post-transplantation cyclophosphamide for DOCK8 deficiency.
Freeman AF, Shah NN, Parta M, Su HC, Brofferio A, Gradus-Pizlo I, Butty S, Hughes TE, Kleiner DE, Avila D, Heller T, Kong HH, Holland SM, Hickstein DD. Freeman AF, et al. Among authors: su hc. J Allergy Clin Immunol Pract. 2016 Nov-Dec;4(6):1239-1242.e1. doi: 10.1016/j.jaip.2016.06.028. Epub 2016 Sep 15. J Allergy Clin Immunol Pract. 2016. PMID: 27641484 Free PMC article. No abstract available.
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
Abolhassani H, Edwards ES, Ikinciogullari A, Jing H, Borte S, Buggert M, Du L, Matsuda-Lennikov M, Romano R, Caridha R, Bade S, Zhang Y, Frederiksen J, Fang M, Bal SK, Haskologlu S, Dogu F, Tacyildiz N, Matthews HF, McElwee JJ, Gostick E, Price DA, Palendira U, Aghamohammadi A, Boisson B, Rezaei N, Karlsson AC, Lenardo MJ, Casanova JL, Hammarström L, Tangye SG, Su HC, Pan-Hammarström Q. Abolhassani H, et al. Among authors: su hc. J Exp Med. 2017 Jan;214(1):91-106. doi: 10.1084/jem.20160849. Epub 2016 Dec 23. J Exp Med. 2017. PMID: 28011864 Free PMC article.
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.
Forbes LR, Vogel TP, Cooper MA, Castro-Wagner J, Schussler E, Weinacht KG, Plant AS, Su HC, Allenspach EJ, Slatter M, Abinun M, Lilic D, Cunningham-Rundles C, Eckstein O, Olbrich P, Guillerman RP, Patel NC, Demirdag YY, Zerbe C, Freeman AF, Holland SM, Szabolcs P, Gennery A, Torgerson TR, Milner JD, Leiding JW. Forbes LR, et al. Among authors: su hc. J Allergy Clin Immunol. 2018 Nov;142(5):1665-1669. doi: 10.1016/j.jaci.2018.07.020. Epub 2018 Aug 6. J Allergy Clin Immunol. 2018. PMID: 30092289 Free PMC article.
Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.
Aydin SE, Freeman AF, Al-Herz W, Al-Mousa HA, Arnaout RK, Aydin RC, Barlogis V, Belohradsky BH, Bonfim C, Bredius RG, Chu JI, Ciocarlie OC, Doğu F, Gaspar HB, Geha RS, Gennery AR, Hauck F, Hawwari A, Hickstein DD, Hoenig M, Ikinciogullari A, Klein C, Kumar A, Ifversen MRS, Matthes S, Metin A, Neven B, Pai SY, Parikh SH, Picard C, Renner ED, Sanal Ö, Schulz AS, Schuster F, Shah NN, Shereck EB, Slatter MA, Su HC, van Montfrans J, Woessmann W, Ziegler JB, Albert MH; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and the European Society for Primary Immunodeficiencies. Aydin SE, et al. Among authors: su hc. J Allergy Clin Immunol Pract. 2019 Mar;7(3):848-855. doi: 10.1016/j.jaip.2018.10.035. Epub 2018 Nov 2. J Allergy Clin Immunol Pract. 2019. PMID: 30391550 Free PMC article.
413 results