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Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells.
Janssen E, Morbach H, Ullas S, Bannock JM, Massad C, Menard L, Barlan I, Lefranc G, Su H, Dasouki M, Al-Herz W, Keles S, Chatila T, Geha RS, Meffre E. Janssen E, et al. Among authors: su h. J Allergy Clin Immunol. 2014 Dec;134(6):1365-1374. doi: 10.1016/j.jaci.2014.07.042. Epub 2014 Sep 11. J Allergy Clin Immunol. 2014. PMID: 25218284 Free PMC article.
Combined immunodeficiency associated with DOCK8 mutations.
Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC. Zhang Q, et al. Among authors: su hc. N Engl J Med. 2009 Nov 19;361(21):2046-55. doi: 10.1056/NEJMoa0905506. Epub 2009 Sep 23. N Engl J Med. 2009. PMID: 19776401 Free PMC article.
Dedicator of cytokinesis 8 (DOCK8) deficiency.
Su HC. Su HC. Curr Opin Allergy Clin Immunol. 2010 Dec;10(6):515-20. doi: 10.1097/ACI.0b013e32833fd718. Curr Opin Allergy Clin Immunol. 2010. PMID: 20864884 Free PMC article. Review.
DOCK8 deficiency.
Su HC, Jing H, Zhang Q. Su HC, et al. Ann N Y Acad Sci. 2011 Dec;1246:26-33. doi: 10.1111/j.1749-6632.2011.06295.x. Ann N Y Acad Sci. 2011. PMID: 22236427 Review.
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.
Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kütükcüler N, Karaca N, Gonzalez-Granado L, Abbott J, Al-Zahrani D, Rezaei N, Baz Z, Thiel J, Ehl S, Marodi L, Orange JS, Sawalle-Belohradsky J, Keles S, Holland SM, Sanal Ö, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Hönig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Dückers G, Al-Herz W, Pai SY, Geha R, Notheis G, Schwarze CP, Tavil B, Azik F, Bienemann K, Grimbacher B, Heinz V, Gaspar HB, Aydin R, Hagl B, Gathmann B, Belohradsky BH, Ochs HD, Chatila T, Renner ED, Su H, Freeman AF, Engelhardt K, Albert MH; inborn errors working party of EBMT. Aydin SE, et al. Among authors: su h. J Clin Immunol. 2015 Feb;35(2):189-98. doi: 10.1007/s10875-014-0126-0. Epub 2015 Jan 28. J Clin Immunol. 2015. PMID: 25627830
Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide.
Shah NN, Freeman AF, Su H, Cole K, Parta M, Moutsopoulos NM, Baris S, Karakoc-Aydiner E, Hughes TE, Kong HH, Holland SM, Hickstein DD. Shah NN, et al. Among authors: su h. Biol Blood Marrow Transplant. 2017 Jun;23(6):980-990. doi: 10.1016/j.bbmt.2017.03.016. Epub 2017 Mar 10. Biol Blood Marrow Transplant. 2017. PMID: 28288951 Free PMC article.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
Calzoni E, Platt CD, Keles S, Kuehn HS, Beaussant-Cohen S, Zhang Y, Pazmandi J, Lanzi G, Pala F, Tahiat A, Artac H, Heredia RJ, Dmytrus J, Reisli I, Uygun V, Uygun D, Bingol A, Basaran E, Djenouhat K, Benhalla N, Bendahmane C, Emiroglu M, Kirchhausen T, Pasham M, Jones J, Wallace JG, Zheng L, Boisson B, Porta F, Rosenzweig SD, Su H, Giliani S, Lenardo M, Geha RS, Boztug K, Chou J, Notarangelo LD. Calzoni E, et al. Among authors: su h. J Allergy Clin Immunol. 2019 Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26. J Allergy Clin Immunol. 2019. PMID: 30822429 Free PMC article.
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths.
Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY,… See abstract for full author list ➔ Bastard P, et al. Among authors: su hc. Sci Immunol. 2021 Aug 19;6(62):eabl4340. doi: 10.1126/sciimmunol.abl4340. Sci Immunol. 2021. PMID: 34413139 Free PMC article.
9,264 results