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Items: 38

1.

STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.

Zimmerman O, Olbrich P, Freeman AF, Rosen LB, Uzel G, Zerbe CS, Rosenzweig SD, Kuehn HS, Holmes KL, Stephany D, Ding L, Sampaio EP, Hsu AP, Holland SM.

Front Immunol. 2019 Jul 10;10:1433. doi: 10.3389/fimmu.2019.01433. eCollection 2019.

2.

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.

Spencer S, Köstel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gürel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavaré S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD, Thaventhiran JED.

J Exp Med. 2019 Jun 24. pii: jem.20190344. doi: 10.1084/jem.20190344. [Epub ahead of print]

PMID:
31235509
3.

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening.

Purswani P, Meehan CA, Kuehn HS, Chang Y, Dasso JF, Meyer AK, Ujhazi B, Csomos K, Lindsay D, Alberdi T, Joychan S, Trotter J, Duff C, Ellison M, Bleesing J, Kumanovics A, Comeau AM, Hale JE, Notarangelo LD, Torgersen TR, Ochs HD, Sriaroon P, Oshrine B, Petrovic A, Rosenzweig SD, Leiding JW, Walter JE.

Front Pediatr. 2019 Apr 5;7:55. doi: 10.3389/fped.2019.00055. eCollection 2019.

4.

Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations.

Kellner ES, Krupski C, Kuehn HS, Rosenzweig SD, Yoshida N, Kojima S, Boutboul D, Latour S, Barlogis V, Galambrun C, Stray-Pedersen A, Erichsen HC, Marsh RA.

J Allergy Clin Immunol. 2019 Jul;144(1):339-342. doi: 10.1016/j.jaci.2019.03.025. Epub 2019 Apr 6. No abstract available.

PMID:
30965037
5.

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC.

Oda H, Beck DB, Kuehn HS, Sampaio Moura N, Hoffmann P, Ibarra M, Stoddard J, Tsai WL, Gutierrez-Cruz G, Gadina M, Rosenzweig SD, Kastner DL, Notarangelo LD, Aksentijevich I.

Front Immunol. 2019 Mar 18;10:479. doi: 10.3389/fimmu.2019.00479. eCollection 2019.

6.

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.

J Allergy Clin Immunol. 2019 Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26. No abstract available.

PMID:
30822429
7.

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW, Calvo KR, Husami A, Zhang K, Roberts J, Amrol D, Sleaseman J, Hsu AP, Holland SM, Marsh R, Fischer A, Fleisher TA, Picard C, Latour S, Rosenzweig SD.

J Clin Invest. 2018 Jul 2;128(7):3071-3087. doi: 10.1172/JCI98164. Epub 2018 Jun 11.

8.

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans.

Cytlak U, Resteu A, Bogaert D, Kuehn HS, Altmann T, Gennery A, Jackson G, Kumanovics A, Voelkerding KV, Prader S, Dullaers M, Reichenbach J, Hill H, Haerynck F, Rosenzweig SD, Collin M, Bigley V.

Nat Commun. 2018 Mar 27;9(1):1239. doi: 10.1038/s41467-018-02977-8.

9.

Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease.

Zimmerman O, Rösler B, Zerbe CS, Rosen LB, Hsu AP, Uzel G, Freeman AF, Sampaio EP, Rosenzweig SD, Kuehn HS, Kim T, Brooks KM, Kumar P, Wang X, Netea MG, van de Veerdonk FL, Holland SM.

Open Forum Infect Dis. 2017 Sep 22;4(4):ofx202. doi: 10.1093/ofid/ofx202. eCollection 2017 Fall.

10.

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.

Bogaert DJ, Kuehn HS, Bonroy C, Calvo KR, Dehoorne J, Vanlander AV, De Bruyne M, Cytlak U, Bigley V, De Baets F, De Baere E, Rosenzweig SD, Haerynck F, Dullaers M.

J Allergy Clin Immunol. 2018 Jan;141(1):432-435.e7. doi: 10.1016/j.jaci.2017.08.019. Epub 2017 Sep 18. No abstract available.

11.

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

Kuehn HS, Niemela JE, Sreedhara K, Stoddard JL, Grossman J, Wysocki CA, de la Morena MT, Garofalo M, Inlora J, Snyder MP, Lewis DB, Stratakis CA, Fleisher TA, Rosenzweig SD.

Blood. 2017 Sep 28;130(13):1553-1564. doi: 10.1182/blood-2017-05-782177. Epub 2017 Aug 4.

12.

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Bogaert DJ, Dullaers M, Kuehn HS, Leroy BP, Niemela JE, De Wilde H, De Schryver S, De Bruyne M, Coppieters F, Lambrecht BN, De Baets F, Rosenzweig SD, De Baere E, Haerynck F.

Sci Rep. 2017 Jun 16;7(1):3702. doi: 10.1038/s41598-017-02434-4.

13.

First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.

Delmonte OM, Biggs CM, Hayward A, Comeau AM, Kuehn HS, Rosenzweig SD, Notarangelo LD.

J Clin Immunol. 2017 May;37(4):336-338. doi: 10.1007/s10875-017-0391-9. Epub 2017 Apr 4. No abstract available.

14.

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.

Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC, Güzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Özen S, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I.

Proc Natl Acad Sci U S A. 2016 Sep 6;113(36):10127-32. doi: 10.1073/pnas.1612594113. Epub 2016 Aug 24.

15.

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE, Casanova JL, Fleisher TA, Hill HR, Kumánovics A, Conley ME, Rosenzweig SD.

N Engl J Med. 2016 Mar 17;374(11):1032-1043. doi: 10.1056/NEJMoa1512234.

16.

CARD9-Dependent Neutrophil Recruitment Protects against Fungal Invasion of the Central Nervous System.

Drummond RA, Collar AL, Swamydas M, Rodriguez CA, Lim JK, Mendez LM, Fink DL, Hsu AP, Zhai B, Karauzum H, Mikelis CM, Rose SR, Ferre EM, Yockey L, Lemberg K, Kuehn HS, Rosenzweig SD, Lin X, Chittiboina P, Datta SK, Belhorn TH, Weimer ET, Hernandez ML, Hohl TM, Kuhns DB, Lionakis MS.

PLoS Pathog. 2015 Dec 17;11(12):e1005293. doi: 10.1371/journal.ppat.1005293. eCollection 2015 Dec.

17.

Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis.

Leiding JW, Sriaroon P, Ly JM, Petrovic A, Howard DL, Shamblott M, Kuehn HS, Fleisher TA.

Ann Allergy Asthma Immunol. 2015 Jul;115(1):1-3. doi: 10.1016/j.anai.2015.04.024. No abstract available.

PMID:
26123418
18.

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings.

Niemela J, Kuehn HS, Kelly C, Zhang M, Davies J, Melendez J, Dreiling J, Kleiner D, Calvo K, Oliveira JB, Rosenzweig SD.

J Clin Immunol. 2015 May;35(4):348-55. doi: 10.1007/s10875-015-0150-8. Epub 2015 Mar 27.

19.

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.

Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G.

Science. 2014 Sep 26;345(6204):1623-1627. doi: 10.1126/science.1255904. Epub 2014 Sep 11.

20.

Intact IL-12 signaling is necessary for the generation of human natural killer cells with enhanced effector function after restimulation.

Simhadri VR, Mariano JL, Zenarruzabeitia O, Seroogy CM, Holland SM, Kuehn HS, Rosenzweig SD, Borrego F.

J Allergy Clin Immunol. 2014 Nov;134(5):1190-3.e1. doi: 10.1016/j.jaci.2014.06.006. Epub 2014 Jul 25. No abstract available.

21.

Activated STING in a vascular and pulmonary syndrome.

Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Sanchez GAM, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS, Lee CR, DiMattia MA, Cowen EW, Gonzalez B, Palmer I, DiGiovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, Stone DL, Hill S, Kim HJ, St Hilaire C, Gurprasad S, Plass N, Chapelle D, Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland SM, Hughes JD, Mehmet H, Issekutz AC, Raffeld M, McElwee J, Fontana JR, Minniti CP, Moir S, Kastner DL, Gadina M, Steven AC, Wingfield PT, Brooks SR, Rosenzweig SD, Fleisher TA, Deng Z, Boehm M, Paller AS, Goldbach-Mansky R.

N Engl J Med. 2014 Aug 7;371(6):507-518. doi: 10.1056/NEJMoa1312625. Epub 2014 Jul 16.

22.

Early-onset stroke and vasculopathy associated with mutations in ADA2.

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I.

N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19.

23.

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.

Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, Avery DT, Moens L, Cannons JL, Biancalana M, Stoddard J, Ouyang W, Frucht DM, Rao VK, Atkinson TP, Agharahimi A, Hussey AA, Folio LR, Olivier KN, Fleisher TA, Pittaluga S, Holland SM, Cohen JI, Oliveira JB, Tangye SG, Schwartzberg PL, Lenardo MJ, Uzel G.

Nat Immunol. 2014 Jan;15(1):88-97. doi: 10.1038/ni.2771. Epub 2013 Oct 28.

24.

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans.

Kuehn HS, Niemela JE, Rangel-Santos A, Zhang M, Pittaluga S, Stoddard JL, Hussey AA, Evbuomwan MO, Priel DA, Kuhns DB, Park CL, Fleisher TA, Uzel G, Oliveira JB.

Blood. 2013 Apr 18;121(16):3117-25. doi: 10.1182/blood-2012-12-469544. Epub 2013 Feb 21.

25.

Stem cell factor programs the mast cell activation phenotype.

Ito T, Smrž D, Jung MY, Bandara G, Desai A, Smržová Š, Kuehn HS, Beaven MA, Metcalfe DD, Gilfillan AM.

J Immunol. 2012 Jun 1;188(11):5428-37. doi: 10.4049/jimmunol.1103366. Epub 2012 Apr 23.

26.

Distinct PGE2-responder and non-responder phenotypes in human mast cell populations: "all or nothing" enhancement of antigen-dependent mediator release.

Kuehn HS, Jung MY, Beaven MA, Metcalfe DD, Gilfillan AM.

Immunol Lett. 2011 Dec 30;141(1):45-54. doi: 10.1016/j.imlet.2011.07.002. Epub 2011 Jul 20.

27.

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

Kuehn HS, Caminha I, Niemela JE, Rao VK, Davis J, Fleisher TA, Oliveira JB.

J Immunol. 2011 May 15;186(10):6035-43. doi: 10.4049/jimmunol.1100021. Epub 2011 Apr 13.

28.

Measuring mast cell mediator release.

Kuehn HS, Radinger M, Gilfillan AM.

Curr Protoc Immunol. 2010 Nov;Chapter 7:Unit7.38. doi: 10.1002/0471142735.im0738s91.

29.

Prostaglandin E2 activates and utilizes mTORC2 as a central signaling locus for the regulation of mast cell chemotaxis and mediator release.

Kuehn HS, Jung MY, Beaven MA, Metcalfe DD, Gilfillan AM.

J Biol Chem. 2011 Jan 7;286(1):391-402. doi: 10.1074/jbc.M110.164772. Epub 2010 Oct 27.

30.

Generation, isolation, and maintenance of human mast cells and mast cell lines derived from peripheral blood or cord blood.

Rådinger M, Jensen BM, Kuehn HS, Kirshenbaum A, Gilfillan AM.

Curr Protoc Immunol. 2010 Aug;Chapter 7:Unit 7.37. doi: 10.1002/0471142735.im0737s90.

31.

Btk-dependent Rac activation and actin rearrangement following FcepsilonRI aggregation promotes enhanced chemotactic responses of mast cells.

Kuehn HS, Rådinger M, Brown JM, Ali K, Vanhaesebroeck B, Beaven MA, Metcalfe DD, Gilfillan AM.

J Cell Sci. 2010 Aug 1;123(Pt 15):2576-85. doi: 10.1242/jcs.071043. Epub 2010 Jun 29.

32.

Downregulation of Wnt-mediated ROS generation is causally implicated in leprechaunism.

Park JW, Kuehn HS, Kim SY, Chung KM, Choi H, Kim M, Kim J, Lee SY, Bae DS, Jin DK, Bae YS.

Mol Cells. 2010 Jan;29(1):63-9. doi: 10.1007/s10059-010-0017-z. Epub 2009 Dec 18.

33.

Glycogen synthase kinase 3beta activation is a prerequisite signal for cytokine production and chemotaxis in human mast cells.

Rådinger M, Kuehn HS, Kim MS, Metcalfe DD, Gilfillan AM.

J Immunol. 2010 Jan 15;184(2):564-72. doi: 10.4049/jimmunol.0902931. Epub 2009 Dec 11.

34.

RGS13 controls g protein-coupled receptor-evoked responses of human mast cells.

Bansal G, DiVietro JA, Kuehn HS, Rao S, Nocka KH, Gilfillan AM, Druey KM.

J Immunol. 2008 Dec 1;181(11):7882-90.

35.
36.

Activation and function of the mTORC1 pathway in mast cells.

Kim MS, Kuehn HS, Metcalfe DD, Gilfillan AM.

J Immunol. 2008 Apr 1;180(7):4586-95.

37.

Synergistic activation of phospholipases Cgamma and Cbeta: a novel mechanism for PI3K-independent enhancement of FcepsilonRI-induced mast cell mediator release.

Kuehn HS, Beaven MA, Ma HT, Kim MS, Metcalfe DD, Gilfillan AM.

Cell Signal. 2008 Apr;20(4):625-36. doi: 10.1016/j.cellsig.2007.11.016. Epub 2008 Jan 22.

38.

G protein-coupled receptors and the modification of FcepsilonRI-mediated mast cell activation.

Kuehn HS, Gilfillan AM.

Immunol Lett. 2007 Nov 15;113(2):59-69. Epub 2007 Sep 18. Review.

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