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Page 1
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.
Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ. Coulter TI, et al. Among authors: abinun m. J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16. J Allergy Clin Immunol. 2017. PMID: 27555459 Free PMC article.
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
Angulo I, Vadas O, Garçon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, Juss J, Cilliers D, Markelj G, Chandra A, Farmer G, Kielkowska A, Clark J, Kracker S, Debré M, Picard C, Pellier I, Jabado N, Morris JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S. Angulo I, et al. Among authors: abinun m. Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17. Science. 2013. PMID: 24136356 Free PMC article.
Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome.
Nademi Z, Slatter MA, Dvorak CC, Neven B, Fischer A, Suarez F, Booth C, Rao K, Laberko A, Rodina J, Bertrand Y, Kołtan S, Dębski R, Flood T, Abinun M, Gennery AR, Hambleton S, Ehl S, Cant AJ. Nademi Z, et al. Among authors: abinun m. J Allergy Clin Immunol. 2017 Mar;139(3):1046-1049. doi: 10.1016/j.jaci.2016.09.040. Epub 2016 Nov 12. J Allergy Clin Immunol. 2017. PMID: 27847301 No abstract available.
Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome.
Harrison SC, Tsilifis C, Slatter MA, Nademi Z, Worth A, Veys P, Ponsford MJ, Jolles S, Al-Herz W, Flood T, Cant AJ, Doffinger R, Barcenas-Morales G, Carpenter B, Hough R, Haraldsson Á, Heimall J, Grimbacher B, Abinun M, Gennery AR. Harrison SC, et al. Among authors: abinun m. J Clin Immunol. 2021 Jul;41(5):934-943. doi: 10.1007/s10875-021-00971-2. Epub 2021 Feb 1. J Clin Immunol. 2021. PMID: 33523338 Free PMC article.
Long-term immune reconstitution after anti-CD52-treated or anti-CD34-treated hematopoietic stem cell transplantation for severe T-lymphocyte immunodeficiency.
Slatter MA, Brigham K, Dickinson AM, Harvey HL, Barge D, Jackson A, Bown N, Flood TJ, Cant AJ, Abinun M, Gennery AR. Slatter MA, et al. Among authors: abinun m. J Allergy Clin Immunol. 2008 Feb;121(2):361-7. doi: 10.1016/j.jaci.2007.10.035. Epub 2007 Dec 20. J Allergy Clin Immunol. 2008. PMID: 18086494
Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.
McCann LJ, McPartland J, Barge D, Strain L, Bourn D, Calonje E, Verbov J, Riordan A, Kokai G, Bacon CM, Wright M, Abinun M. McCann LJ, et al. Among authors: abinun m. J Clin Immunol. 2014 Jan;34(1):42-8. doi: 10.1007/s10875-013-9962-6. Epub 2013 Nov 12. J Clin Immunol. 2014. PMID: 24217815 Free PMC article.
Haploidentical CD3 TCRαβ and CD19-depleted second stem cell transplant for steroid-resistant acute skin graft versus host disease.
Slatter M, Nademi Z, Leahy TR, Morillo-Gutierrez B, Dunn J, Barge D, Skinner R, Ryan C, Hambleton S, Abinun M, Flood T, Cant A, Gennery A. Slatter M, et al. Among authors: abinun m. J Allergy Clin Immunol. 2016 Aug;138(2):603-605.e1. doi: 10.1016/j.jaci.2015.12.1335. Epub 2016 Mar 23. J Allergy Clin Immunol. 2016. PMID: 27016800 No abstract available.
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C. Miot C, et al. Among authors: abinun m. Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5. Blood. 2017. PMID: 28679735 Free PMC article.
Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis.
Robertson N, Engelhardt KR, Morgan NV, Barge D, Cant AJ, Hughes SM, Abinun M, Xu Y, Koref MS, Arkwright PD, Hambleton S. Robertson N, et al. Among authors: abinun m. J Clin Immunol. 2015 Oct;35(7):598-603. doi: 10.1007/s10875-015-0193-x. Epub 2015 Sep 23. J Clin Immunol. 2015. PMID: 26399252 Free PMC article.
192 results