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Items: 31

1.

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 HA, Al Herz W, Al-Saud B, Mohammed R, Al-Zahrani DM, AlGhamdi H, 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 Jan 13. pii: blood.2019002690. doi: 10.1182/blood.2019002690. [Epub ahead of print]

PMID:
31932845
2.

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
3.

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.

4.

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.

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.

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.

7.

ZNF341 controls STAT3 expression and thereby immunocompetence.

Frey-Jakobs S, Hartberger JM, Fliegauf M, Bossen C, Wehmeyer ML, Neubauer JC, Bulashevska A, Proietti M, Fröbel P, Nöltner C, Yang L, Rojas-Restrepo J, Langer N, Winzer S, Engelhardt KR, Glocker C, Pfeifer D, Klein A, Schäffer AA, Lagovsky I, Lachover-Roth I, Béziat V, Puel A, Casanova JL, Fleckenstein B, Weidinger S, Kilic SS, Garty BZ, Etzioni A, Grimbacher B.

Sci Immunol. 2018 Jun 15;3(24). pii: eaat4941. doi: 10.1126/sciimmunol.aat4941.

8.

14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency.

Schepp J, Chou J, Skrabl-Baumgartner A, Arkwright PD, Engelhardt KR, Hambleton S, Morio T, Röther E, Warnatz K, Geha R, Grimbacher B.

Front Immunol. 2017 Aug 16;8:964. doi: 10.3389/fimmu.2017.00964. eCollection 2017.

9.

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.

10.

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.

11.

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
12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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.

18.

Ten-year follow-up of a DOCK8-deficient child with features of systemic lupus erythematosus.

Jouhadi Z, Khadir K, Ailal F, Bouayad K, Nadifi S, Engelhardt KR, Grimbacher B.

Pediatrics. 2014 Nov;134(5):e1458-63. doi: 10.1542/peds.2013-1383.

PMID:
25332498
19.

IL-10 in humans: lessons from the gut, IL-10/IL-10 receptor deficiencies, and IL-10 polymorphisms.

Engelhardt KR, Grimbacher B.

Curr Top Microbiol Immunol. 2014;380:1-18. doi: 10.1007/978-3-662-43492-5_1. Review.

PMID:
25004811
20.

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.

Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, Schäffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B.

J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1.

21.

Evidence for non-neutralizing autoantibodies against IL-10 signalling components in patients with inflammatory bowel disease.

Frede N, Glocker EO, Wanders J, Engelhardt KR, Kreisel W, Ruemmele FM, Grimbacher B.

BMC Immunol. 2014 Feb 28;15:10. doi: 10.1186/1471-2172-15-10.

22.

[Primary immunodeficiency].

Engelhardt KR, Grimbacher B, Niehues T.

Z Rheumatol. 2013 Sep;72(7):643-52. doi: 10.1007/s00393-013-1161-6. German.

PMID:
23989691
23.

An update on the hyper-IgE syndromes.

Yong PF, Freeman AF, Engelhardt KR, Holland S, Puck JM, Grimbacher B.

Arthritis Res Ther. 2012 Nov 30;14(6):228. doi: 10.1186/ar4069. Review.

24.

Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.

Engelhardt KR, Shah N, Faizura-Yeop I, Kocacik Uygun DF, Frede N, Muise AM, Shteyer E, Filiz S, Chee R, Elawad M, Hartmann B, Arkwright PD, Dvorak C, Klein C, Puck JM, Grimbacher B, Glocker EO.

J Allergy Clin Immunol. 2013 Mar;131(3):825-30. doi: 10.1016/j.jaci.2012.09.025. Epub 2012 Nov 14.

PMID:
23158016
25.

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.

Al-Herz W, Ragupathy R, Massaad MJ, Al-Attiyah R, Nanda A, Engelhardt KR, Grimbacher B, Notarangelo L, Chatila T, Geha RS.

Clin Immunol. 2012 Jun;143(3):266-72. doi: 10.1016/j.clim.2012.03.002. Epub 2012 Mar 30.

26.

The phenotype of human STK4 deficiency.

Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schäffer AA, Gertz EM, Schambach A, Kreipe HH, Pfeifer D, Engelhardt KR, Rezaei N, Grimbacher B, Lohrmann S, Sherkat R, Klein C.

Blood. 2012 Apr 12;119(15):3450-7. doi: 10.1182/blood-2011-09-378158. Epub 2012 Jan 31.

27.

Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects.

Engelhardt KR, Grimbacher B.

J Allergy Clin Immunol. 2012 Feb;129(2):294-305; quiz 306-7. doi: 10.1016/j.jaci.2011.12.966. Review.

PMID:
22284928
28.

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.

Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutukculer N, Camcioğlu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ER, Grimbacher B, Chatila TA.

J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038. Erratum in: J Allergy Clin Immunol. 2010 Mar;125(3):743. Kutuculer, Necil [corrected to Kutukculer, Necil].

29.

Vaccine-induced protection against Borna disease in wild-type and perforin-deficient mice.

Hausmann J, Baur K, Engelhardt KR, Fischer T, Rziha HJ, Staeheli P.

J Gen Virol. 2005 Feb;86(Pt 2):399-403.

PMID:
15659759
30.
31.

Membrane domains in lymphocytes - from lipid rafts to protein scaffolds.

Harder T, Engelhardt KR.

Traffic. 2004 Apr;5(4):265-75. Review.

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