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Items: 1 to 50 of 177

1.

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.

Al Shehri T, Gilmour K, Gothe F, Loughlin S, Bibi S, Rowan AD, Grainger A, Mohanadas T, Cant AJ, Slatter MA, Hambleton S, Lilic D, Leahy TR.

J Clin Immunol. 2019 Sep 11. doi: 10.1007/s10875-019-00687-4. [Epub ahead of print]

PMID:
31512162
2.

Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ.

Swan DJ, Aschenbrenner D, Lamb CA, Chakraborty K, Clark J, Pandey S, Engelhardt KR, Chen R, Cavounidis A, Ding Y, Krasnogor N, Carey CD, Acres M, Needham S, Cant AJ, Arkwright PD, Chandra A, Okkenhaug K, Uhlig HH, Hambleton S.

Haematologica. 2019 Oct;104(10):e483-e486. doi: 10.3324/haematol.2018.208397. Epub 2019 May 9. No abstract available.

3.

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.

Pillay BA, Avery DT, Smart JM, Cole T, Choo S, Chan D, Gray PE, Frith K, Mitchell R, Phan TG, Wong M, Campbell DE, Hsu P, Ziegler JB, Peake J, Alvaro F, Picard C, Bustamante J, Neven B, Cant AJ, Uzel G, Arkwright PD, Casanova JL, Su HC, Freeman AF, Shah N, Hickstein DD, Tangye SG, Ma CS.

JCI Insight. 2019 Apr 25;5. pii: 127527. doi: 10.1172/jci.insight.127527.

4.

New graft manipulation strategies improve the outcome of mismatched stem cell transplantation in children with primary immunodeficiencies.

Elfeky R, Shah RM, Unni MNM, Ottaviano G, Rao K, Chiesa R, Amrolia P, Worth A, Flood T, Abinun M, Hambleton S, Cant AJ, Gilmour K, Adams S, Ahsan G, Barge D, Gennery AR, Qasim W, Slatter M, Veys P.

J Allergy Clin Immunol. 2019 Jul;144(1):280-293. doi: 10.1016/j.jaci.2019.01.030. Epub 2019 Feb 4.

PMID:
30731121
5.

An essential role for the Zn2+ transporter ZIP7 in B cell development.

Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm BC, Ma CS, Sims D, van den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S.

Nat Immunol. 2019 Mar;20(3):350-361. doi: 10.1038/s41590-018-0295-8. Epub 2019 Feb 4.

6.

The Treatment of Activated PI3Kδ Syndrome.

Coulter TI, Cant AJ.

Front Immunol. 2018 Sep 7;9:2043. doi: 10.3389/fimmu.2018.02043. eCollection 2018. Review.

7.

Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency.

Nademi Z, Wynn RF, Slatter M, Hughes SM, Bonney D, Qasim W, Latour S, Trück J, Patel S, Abinun M, Flood T, Hambleton S, Cant AJ, Gennery AR, Arkwright PD.

Bone Marrow Transplant. 2019 Jan;54(1):130-133. doi: 10.1038/s41409-018-0246-x. Epub 2018 Jun 8. No abstract available.

PMID:
29884857
8.

The International Alliance of Primary Immune Deficiency Societies.

Gennery AR, Abraham RS, Torgerson TR, Etzioni A, Cant AJ, Meyts I, Chipeta J, Bousfiha AA, Dieye TD, Condino-Neto A, Espinosa F, Besrodnik L, Lau YL, Singh S, Chan GCF, Orange JS; European Society for Immunodeficiencies; Clinical Immunology Society; African Society for Immunodeficiencies; Latin American Society for Immunodeficiencies; Asia Pacific Society for Immunodeficiencies.

J Clin Immunol. 2018 May;38(4):447-449. doi: 10.1007/s10875-018-0517-8. Epub 2018 Jun 5. No abstract available.

PMID:
29872941
9.

Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation.

Smyth AE, Kaleviste E, Snow A, Kisand K, McMahon CJ, Cant AJ, Leahy TR.

J Clin Immunol. 2018 May;38(4):468-470. doi: 10.1007/s10875-018-0513-z. Epub 2018 May 26. No abstract available.

PMID:
29804236
10.

Allogeneic hematopoietic stem cell transplantation for severe, refractory juvenile idiopathic arthritis.

M F Silva J, Ladomenou F, Carpenter B, Chandra S, Sedlacek P, Formankova R, Grandage V, Friswell M, Cant AJ, Nademi Z, Slatter MA, Gennery AR, Hambleton S, Flood TJ, Lucchini G, Chiesa R, Rao K, Amrolia PJ, Brogan P, Wedderburn LR, Glanville JM, Hough R, Marsh R, Abinun M, Veys P.

Blood Adv. 2018 Apr 10;2(7):777-786. doi: 10.1182/bloodadvances.2017014449.

11.

Non-posttransplant lymphoproliferative disorder malignancy after hematopoietic stem cell transplantation in patients with primary immunodeficiency: UK experience.

Unni MNM, Elfeky R, Rao K, Nademi Z, Chiesa R, Amrolia P, Skinner R, Slater O, Worth A, Flood T, Abinun M, Hambleton S, Qasim W, Gaspar HB, Cant AJ, Gennery AR, Veys P, Slatter MA.

J Allergy Clin Immunol. 2018 Jun;141(6):2319-2321.e1. doi: 10.1016/j.jaci.2018.02.038. Epub 2018 Mar 7. No abstract available.

PMID:
29524534
12.

In vivo T-depleted reduced-intensity transplantation for GATA2-related immune dysfunction.

Tholouli E, Sturgess K, Dickinson RE, Gennery A, Cant AJ, Jackson G, Lordan J, Hambleton S, Slatter MA, Bigley V, Collin M.

Blood. 2018 Mar 22;131(12):1383-1387. doi: 10.1182/blood-2017-10-811489. Epub 2018 Jan 2. No abstract available.

13.

Treosulfan and Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Children with Primary Immunodeficiency: UK Experience.

Slatter MA, Rao K, Abd Hamid IJ, Nademi Z, Chiesa R, Elfeky R, Pearce MS, Amrolia P, Worth A, Flood T, Abinun M, Hambleton S, Qasim W, Gaspar HB, Cant AJ, Gennery AR, Veys P.

Biol Blood Marrow Transplant. 2018 Mar;24(3):529-536. doi: 10.1016/j.bbmt.2017.11.009. Epub 2017 Nov 16.

14.

T-cell receptor αβ+ and CD19+ cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency.

Shah RM, Elfeky R, Nademi Z, Qasim W, Amrolia P, Chiesa R, Rao K, Lucchini G, Silva JMF, Worth A, Barge D, Ryan D, Conn J, Cant AJ, Skinner R, Abd Hamid IJ, Flood T, Abinun M, Hambleton S, Gennery AR, Veys P, Slatter M.

J Allergy Clin Immunol. 2018 Apr;141(4):1417-1426.e1. doi: 10.1016/j.jaci.2017.07.008. Epub 2017 Aug 3. Erratum in: J Allergy Clin Immunol. 2019 May;143(5):1977.

PMID:
28780238
15.

Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20).

Duncan CJA, Dinnigan E, Theobald R, Grainger A, Skelton AJ, Hussain R, Willet JDP, Swan DJ, Coxhead J, Thomas MF, Thomas J, Zamvar V, Slatter MA, Cant AJ, Engelhardt KR, Hambleton S.

Ann Rheum Dis. 2018 May;77(5):783-786. doi: 10.1136/annrheumdis-2016-210944. Epub 2017 Jun 28. No abstract available.

16.

Allele-level HLA matching for umbilical cord blood transplantation for non-malignant diseases in children: a retrospective analysis.

Eapen M, Wang T, Veys PA, Boelens JJ, St Martin A, Spellman S, Bonfim CS, Brady C, Cant AJ, Dalle JH, Davies SM, Freeman J, Hsu KC, Fleischhauer K, Kenzey C, Kurtzberg J, Michel G, Orchard PJ, Paviglianiti A, Rocha V, Veneris MR, Volt F, Wynn R, Lee SJ, Horowitz MM, Gluckman E, Ruggeri A.

Lancet Haematol. 2017 Jul;4(7):e325-e333. doi: 10.1016/S2352-3026(17)30104-7. Epub 2017 Jun 13.

17.

Enterovirus-Related Immune Reconstitution Inflammatory Syndrome (IRIS) Following Haploidentical Stem Cell Transplantation in an MHC Class II-Deficient Child.

Shah RM, Waugh S, Ng KF, Gennery AR, Slatter M, Cant AJ.

J Clin Immunol. 2017 Jul;37(5):419-421. doi: 10.1007/s10875-017-0402-x. Epub 2017 May 16. No abstract available.

PMID:
28508932
18.

Prevalence of Cryptosporidium Carriage and Disease in Children With Primary Immune Deficiencies Undergoing Hematopoietic Stem Cell Transplant in Northern Europe.

Davies AP, Slatter M, Gennery AR, Robinson G, Crouch N, Elwin K, Hadfield SJ, Cant AJ, Davies EG, Chalmers RM.

Pediatr Infect Dis J. 2017 May;36(5):504-506. doi: 10.1097/INF.0000000000001517.

PMID:
28403054
19.

Biallelic mutations in IRF8 impair human NK cell maturation and function.

Mace EM, Bigley V, Gunesch JT, Chinn IK, Angelo LS, Care MA, Maisuria S, Keller MD, Togi S, Watkin LB, LaRosa DF, Jhangiani SN, Muzny DM, Stray-Pedersen A, Coban Akdemir Z, Smith JB, Hernández-Sanabria M, Le DT, Hogg GD, Cao TN, Freud AG, Szymanski EP, Savic S, Collin M, Cant AJ, Gibbs RA, Holland SM, Caligiuri MA, Ozato K, Paust S, Doody GM, Lupski JR, Orange JS.

J Clin Invest. 2017 Jan 3;127(1):306-320. doi: 10.1172/JCI86276. Epub 2016 Nov 28.

20.

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.

J Allergy Clin Immunol. 2017 Mar;139(3):1046-1049. doi: 10.1016/j.jaci.2016.09.040. Epub 2016 Nov 12. No abstract available.

PMID:
27847301
21.

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.

Engelhardt KR, Xu Y, Grainger A, Germani Batacchi MG, Swan DJ, Willet JD, Abd Hamid IJ, Agyeman P, Barge D, Bibi S, Jenkins L, Flood TJ, Abinun M, Slatter MA, Gennery AR, Cant AJ, Santibanez Koref M, Gilmour K, Hambleton S.

J Clin Immunol. 2017 Jan;37(1):42-50. doi: 10.1007/s10875-016-0343-9. Epub 2016 Nov 2.

22.

Bone marrow transplantation for MHC class I deficiency corrects T-cell immunity but dissociates natural killer cell repertoire formation from function.

Gao Y, Arkwright PD, Carter R, Cazaly A, Harrison RJ, Mant A, Cant AJ, Gadola S, Elliott TJ, Khakoo SI, Williams AP.

J Allergy Clin Immunol. 2016 Dec;138(6):1733-1736.e2. doi: 10.1016/j.jaci.2016.06.029. Epub 2016 Jul 27. No abstract available.

23.

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.

J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.

24.

Hematopoietic stem cell transplantation for CTLA4 deficiency.

Slatter MA, Engelhardt KR, Burroughs LM, Arkwright PD, Nademi Z, Skoda-Smith S, Hagin D, Kennedy A, Barge D, Flood T, Abinun M, Wynn RF, Gennery AR, Cant AJ, Sansom D, Hambleton S, Torgerson TR.

J Allergy Clin Immunol. 2016 Aug;138(2):615-619.e1. doi: 10.1016/j.jaci.2016.01.045. Epub 2016 Apr 18. No abstract available.

PMID:
27102614
25.

Immunodeficiency in a Child with 22q11.2 Microduplication Syndrome.

Traynor R, Butler KM, Cant AJ, Leahy TR.

J Clin Immunol. 2016 Jul;36(5):418-9. doi: 10.1007/s10875-016-0286-1. Epub 2016 Apr 20. No abstract available.

PMID:
27098246
26.

Respiratory Health and Related Quality of Life in Patients with Congenital Agammaglobulinemia in the Northern Region of the UK.

Bryan BA, Battersby A, Shillitoe BM, Barge D, Bourne H, Flood T, Cant AJ, Stroud C, Gennery AR.

J Clin Immunol. 2016 Jul;36(5):472-9. doi: 10.1007/s10875-016-0284-3. Epub 2016 Apr 18.

27.

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S.

J Clin Immunol. 2016 Apr;36(3):336-7. doi: 10.1007/s10875-016-0248-7. No abstract available.

28.

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S.

J Clin Immunol. 2016 Feb;36(2):117-22. doi: 10.1007/s10875-016-0232-2. Epub 2016 Jan 22. Erratum in: J Clin Immunol. 2016 Apr;36(3):336-7.

29.

Human IFNAR2 deficiency: Lessons for antiviral immunity.

Duncan CJ, Mohamad SM, Young DF, Skelton AJ, Leahy TR, Munday DC, Butler KM, Morfopoulou S, Brown JR, Hubank M, Connell J, Gavin PJ, McMahon C, Dempsey E, Lynch NE, Jacques TS, Valappil M, Cant AJ, Breuer J, Engelhardt KR, Randall RE, Hambleton S.

Sci Transl Med. 2015 Sep 30;7(307):307ra154. doi: 10.1126/scitranslmed.aac4227.

30.

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.

J Clin Immunol. 2015 Oct;35(7):598-603. doi: 10.1007/s10875-015-0193-x. Epub 2015 Sep 23.

31.

The importance of vaccination and immunoglobulin treatment for patients with primary immunodeficiency diseases (PIDs)--World PI Week April 22-29, 2015.

Reda SM, Cant AJ.

Eur J Immunol. 2015 May;45(5):1285-6. doi: 10.1002/eji.201570054. No abstract available.

32.

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.

Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal Ö, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T, Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B.

J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi: 10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25.

33.

Dual proteolytic pathways govern glycolysis and immune competence.

Lu W, Zhang Y, McDonald DO, Jing H, Carroll B, Robertson N, Zhang Q, Griffin H, Sanderson S, Lakey JH, Morgan NV, Reynard LN, Zheng L, Murdock HM, Turvey SE, Hackett SJ, Prestidge T, Hall JM, Cant AJ, Matthews HF, Koref MF, Simon AK, Korolchuk VI, Lenardo MJ, Hambleton S, Su HC.

Cell. 2014 Dec 18;159(7):1578-90. doi: 10.1016/j.cell.2014.12.001.

34.

Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation.

Gambineri E, Ciullini Mannurita S, Robertson H, Vignoli M, Haugk B, Lionetti P, Hambleton S, Barge D, Gennery AR, Slatter M, Nademi Z, Flood TJ, Jackson A, Abinun M, Cant AJ.

J Allergy Clin Immunol. 2015 Jan;135(1):260-2. doi: 10.1016/j.jaci.2014.09.009. Epub 2014 Oct 25. No abstract available.

35.

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes JD, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA.

Blood. 2015 Jan 22;125(4):591-9. doi: 10.1182/blood-2014-09-602763. Epub 2014 Oct 30.

36.

Low-dose serotherapy improves early immune reconstitution after cord blood transplantation for primary immunodeficiencies.

Lane JP, Evans PT, Nademi Z, Barge D, Jackson A, Hambleton S, Flood TJ, Cant AJ, Abinun M, Slatter MA, Gennery AR.

Biol Blood Marrow Transplant. 2014 Feb;20(2):243-9. doi: 10.1016/j.bbmt.2013.11.005. Epub 2013 Nov 10.

37.

Primary Immune Deficiency Treatment Consortium (PIDTC) report.

Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, Cunningham-Rundles C, Dinauer MC, Dvorak CC, Filipovich AH, Fleisher TA, Bobby Gaspar H, Gungor T, Haddad E, Hovermale E, Huang F, Hurley A, Hurley M, Iyengar S, Kang EM, Logan BR, Long-Boyle JR, Malech HL, McGhee SA, Modell F, Modell V, Ochs HD, O'Reilly RJ, Parkman R, Rawlings DJ, Routes JM, Shearer WT, Small TN, Smith H, Sullivan KE, Szabolcs P, Thrasher A, Torgerson TR, Veys P, Weinberg K, Zuniga-Pflucker JC; workshop participants.

J Allergy Clin Immunol. 2014 Feb;133(2):335-47. doi: 10.1016/j.jaci.2013.07.052. Epub 2013 Oct 15.

38.

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.

Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17.

39.

Clinical outcome in children with chronic granulomatous disease managed conservatively or with hematopoietic stem cell transplantation.

Cole T, Pearce MS, Cant AJ, Cale CM, Goldblatt D, Gennery AR.

J Allergy Clin Immunol. 2013 Nov;132(5):1150-5. doi: 10.1016/j.jaci.2013.05.031. Epub 2013 Jul 16.

PMID:
23870668
40.

Cognitive ability in children with chronic granulomatous disease: a comparison of those managed conservatively with those who have undergone hematopoietic stem cell transplant.

Cole TS, McKendrick F, Cant AJ, Pearce MS, Cale CM, Goldblatt DR, Gennery AR, Titman P.

Neuropediatrics. 2013 Aug;44(4):230-2. doi: 10.1055/s-0033-1333875. Epub 2013 Feb 8.

PMID:
23397467
41.

STAT2 deficiency and susceptibility to viral illness in humans.

Hambleton S, Goodbourn S, Young DF, Dickinson P, Mohamad SM, Valappil M, McGovern N, Cant AJ, Hackett SJ, Ghazal P, Morgan NV, Randall RE.

Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):3053-8. doi: 10.1073/pnas.1220098110. Epub 2013 Feb 7.

42.

The 10 warning signs: a time for a change?

OʼSullivan MD, Cant AJ.

Curr Opin Allergy Clin Immunol. 2012 Dec;12(6):588-94. doi: 10.1097/ACI.0b013e3283591534. Review.

PMID:
23026771
43.

Health related quality of life and emotional health in children with chronic granulomatous disease: a comparison of those managed conservatively with those that have undergone haematopoietic stem cell transplant.

Cole T, McKendrick F, Titman P, Cant AJ, Pearce MS, Cale CM, Goldblatt D, Gennery AR.

J Clin Immunol. 2013 Jan;33(1):8-13. doi: 10.1007/s10875-012-9758-0. Epub 2012 Aug 12.

PMID:
23011479
44.

Hematopoietic stem cell transplantation for primary immunodeficiency diseases.

Slatter MA, Cant AJ.

Ann N Y Acad Sci. 2011 Nov;1238:122-31. doi: 10.1111/j.1749-6632.2011.06243.x.

PMID:
22129059
45.

Emotional and behavioural difficulties in chronic granulomatous disease.

Cole TS, Jones LK, McGrogan P, Pearce MS, Flood TJ, Cant AJ, Goldblatt D, Thrasher AJ, Gennery AR, McKendrick F, Titman P.

Arch Dis Child. 2012 Jan;97(1):87. doi: 10.1136/archdischild-2011-300780. Epub 2011 Oct 12. No abstract available.

PMID:
21994243
46.

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study.

Moratto D, Giliani S, Bonfim C, Mazzolari E, Fischer A, Ochs HD, Cant AJ, Thrasher AJ, Cowan MJ, Albert MH, Small T, Pai SY, Haddad E, Lisa A, Hambleton S, Slatter M, Cavazzana-Calvo M, Mahlaoui N, Picard C, Torgerson TR, Burroughs L, Koliski A, Neto JZ, Porta F, Qasim W, Veys P, Kavanau K, Hönig M, Schulz A, Friedrich W, Notarangelo LD.

Blood. 2011 Aug 11;118(6):1675-84. doi: 10.1182/blood-2010-11-319376. Epub 2011 Jun 9.

47.

Clinical features that identify children with primary immunodeficiency diseases.

Subbarayan A, Colarusso G, Hughes SM, Gennery AR, Slatter M, Cant AJ, Arkwright PD.

Pediatrics. 2011 May;127(5):810-6. doi: 10.1542/peds.2010-3680. Epub 2011 Apr 11.

PMID:
21482601
48.

Outcome of children requiring intensive care following haematopoietic SCT for primary immunodeficiency and other non-malignant disorders.

Cole TS, Johnstone IC, Pearce MS, Fulton B, Cant AJ, Gennery AR, Slatter MA.

Bone Marrow Transplant. 2012 Jan;47(1):40-5. doi: 10.1038/bmt.2011.26. Epub 2011 Feb 28.

PMID:
21358684
49.

Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain-deficient severe combined immunodeficiency.

Slatter MA, Angus B, Windebank K, Taylor A, Meaney C, Lester T, Norbury G, Hambleton S, Abinun M, Flood TJ, Cant AJ, Gennery AR.

J Allergy Clin Immunol. 2011 Feb;127(2):533-5. doi: 10.1016/j.jaci.2010.09.036. Epub 2010 Nov 20. No abstract available.

PMID:
21094519
50.

Impaired T(H)17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Ng WF, von Delwig A, Carmichael AJ, Arkwright PD, Abinun M, Cant AJ, Jolles S, Lilic D.

J Allergy Clin Immunol. 2010 Nov;126(5):1006-15, 1015.e1-4. doi: 10.1016/j.jaci.2010.08.027. Epub 2010 Oct 8.

PMID:
20934207

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