Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 138

1.

Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.

Martin E, Minet N, Boschat AC, Sanquer S, Sobrino S, Lenoir C, de Villartay JP, Leite-de-Moraes M, Picard C, Soudais C, Bourne T, Hambleton S, Hughes SM, Wynn RF, Briggs TA; Genomics England Research Consortium, Patel S, Lawrence MG, Fischer A, Arkwright PD, Latour S.

JCI Insight. 2020 Mar 12;5(5). pii: 133880. doi: 10.1172/jci.insight.133880.

2.

Improved transplant survival and long-term disease outcome in children with MHC class II deficiency.

Lum SH, Anderson C, McNaughton P, Engelhardt KR, MacKenzie B, Watson H, Al-Mousa H, Al-Herz W, Al-Saud B, Mohammed R, Al-Zahrani DM, Alghamdi HA, Goronfolah L, Nademi Z, Habibollah S, Flinn AM, Shillitoe B, Owens S, Williams E, Emonts M, Hambleton S, Abinun M, Flood T, Cant A, Gennery AR, Slatter M.

Blood. 2020 Mar 19;135(12):954-973. doi: 10.1182/blood.2019002690.

PMID:
31932845
3.

Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency.

Abolhassani H, El-Sherbiny YM, Arumugakani G, Carter C, Richards S, Lawless D, Wood P, Buckland M, Heydarzadeh M, Aghamohammadi A, Hambleton S, Hammarström L, Burns SO, Doffinger R, Savic S.

J Clin Immunol. 2020 Feb;40(2):277-288. doi: 10.1007/s10875-019-00735-z. Epub 2019 Dec 20.

4.

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.

Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA.

Sci Immunol. 2019 Dec 13;4(42). pii: eaav7501. doi: 10.1126/sciimmunol.aav7501.

PMID:
31836668
5.

Proposed Therapeutic Range of Treosulfan in Reduced Toxicity Pediatric Allogeneic Hematopoietic Stem Cell Transplant Conditioning: Results From a Prospective Trial.

Chiesa R, Standing JF, Winter R, Nademi Z, Chu J, Pinner D, Kloprogge F, McLellen S, Amrolia PJ, Rao K, Lucchini G, Silva J, Ciocarlie O, Lazareva A, Gennery AR, Doncheva B, Cant AJ, Hambleton S, Flood T, Rogerson E, Devine K, Prunty H, Heales S, Veys P, Slatter M.

Clin Pharmacol Ther. 2019 Nov 7. doi: 10.1002/cpt.1715. [Epub ahead of print]

PMID:
31701524
6.

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 Nov;39(8):776-785. doi: 10.1007/s10875-019-00687-4. Epub 2019 Sep 11.

PMID:
31512162
7.

A glimpse of 21st century care

Hambleton S.

Aust J Gen Pract. 2018 Oct;47(10):670-673. doi: 10.31128/AJGP-06-18-4596.

8.

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.

9.

Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome.

Boyadzhiev M, Marinov L, Boyadzhiev V, Iotova V, Aksentijevich I, Hambleton S.

Pediatr Rheumatol Online J. 2019 May 2;17(1):19. doi: 10.1186/s12969-019-0322-9.

10.

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.

Zhang Z, Gothe F, Pennamen P, James JR, McDonald D, Mata CP, Modis Y, Alazami AM, Acres M, Haller W, Bowen C, Döffinger R, Sinclair J, Brothers S, Zhang Y, Matthews HF, Naudion S, Pelluard F, Alajlan H, Yamazaki Y, Notarangelo LD, Thaventhiran JE, Engelhardt KR, Al-Mousa H, Hambleton S, Rooryck C, Smith KGC, Lenardo MJ.

J Exp Med. 2019 Jun 3;216(6):1311-1327. doi: 10.1084/jem.20182304. Epub 2019 Apr 30.

11.

Two decades of excellent transplant survival for chronic granulomatous disease: a supraregional immunology transplant center report.

Lum SH, Flood T, Hambleton S, McNaughton P, Watson H, Abinun M, Owens S, Cigrovski N, Cant A, Gennery AR, Slatter M.

Blood. 2019 Jun 6;133(23):2546-2549. doi: 10.1182/blood.2019000021. Epub 2019 Apr 5. No abstract available.

PMID:
30952673
12.

Life-threatening pulmonary interstitial lung disease complicating pediatric nonhumoral immunodeficiencies.

Al Farsi T, Hughes SM, Wynn RF, Cheesman E, Rieux-Laucat F, Latour S, Picard C, Hambleton S, Arkwright PD.

J Allergy Clin Immunol Pract. 2019 Sep - Oct;7(7):2456-2458.e4. doi: 10.1016/j.jaip.2019.03.034. Epub 2019 Apr 3. No abstract available.

PMID:
30951883
13.

Australia's digital health journey.

Hambleton SJ, Aloizos Am J.

Med J Aust. 2019 Apr;210 Suppl 6:S5-S6. doi: 10.5694/mja2.50039. No abstract available.

PMID:
30927473
14.

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
15.

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.

16.

Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negative T-Lymphocytes.

Prader S, Felber M, Volkmer B, Trück J, Schwieger-Briel A, Theiler M, Weibel L, Hambleton S, Seipel K, Vavassori S, Pachlopnik Schmid J.

Front Immunol. 2018 Dec 3;9:2766. doi: 10.3389/fimmu.2018.02766. eCollection 2018.

17.

Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain.

Acres MJ, Gothe F, Grainger A, Skelton AJ, Swan DJ, Willet JDP, Leech S, Galcheva S, Iotova V, Hambleton S, Engelhardt KR.

J Allergy Clin Immunol. 2019 Jan;143(1):413-416.e4. doi: 10.1016/j.jaci.2018.08.032. Epub 2018 Sep 8. No abstract available.

18.

Novel multi-target compounds in the quest for new chemotherapies against Alzheimer's disease: An experimental and theoretical study.

Martínez A, Zahran M, Gomez M, Cooper C, Guevara J, Ekengard E, Nordlander E, Alcendor R, Hambleton S.

Bioorg Med Chem. 2018 Sep 15;26(17):4823-4840. doi: 10.1016/j.bmc.2018.08.019. Epub 2018 Aug 25.

PMID:
30181028
19.

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.

J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28.

20.

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Kong XF, Martinez-Barricarte R, Kennedy J, Mele F, Lazarov T, Deenick EK, Ma CS, Breton G, Lucero KB, Langlais D, Bousfiha A, Aytekin C, Markle J, Trouillet C, Jabot-Hanin F, Arlehamn CSL, Rao G, Picard C, Lasseau T, Latorre D, Hambleton S, Deswarte C, Itan Y, Abarca K, Moraes-Vasconcelos D, Ailal F, Ikinciogullari A, Dogu F, Benhsaien I, Sette A, Abel L, Boisson-Dupuis S, Schröder B, Nussenzweig MC, Liu K, Geissmann F, Tangye SG, Gros P, Sallusto F, Bustamante J, Casanova JL.

Nat Immunol. 2018 Sep;19(9):973-985. doi: 10.1038/s41590-018-0178-z. Epub 2018 Aug 20.

Supplemental Content

Loading ...
Support Center