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Items: 49

1.

Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression.

Todaro F, Tamassia N, Pinelli M, Moratto D, Dotta L, Grassi A, Consonni F, Giacomelli M, Lionetti P, Gardiman E, Cassatella MA, Gambineri E, Canani RB, Badolato R.

Haematologica. 2019 Jul;104(7):e322-e325. doi: 10.3324/haematol.2018.202374. Epub 2019 May 9. No abstract available.

2.

CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface.

Vignoli M, Ciullini Mannurita S, Fioravanti A, Tumino M, Grassi A, Guariso G, Favre C, D'Elios MM, Gambineri E.

Clin Immunol. 2019 Apr;201:15-19. doi: 10.1016/j.clim.2019.02.003. Epub 2019 Feb 8.

PMID:
30742970
3.

Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome.

Eren Akarcan S, Edeer Karaca N, Aksu G, Aykut A, Yilmaz Karapinar D, Cetin F, Aydinok Y, Azarsiz E, Gambineri E, Cogulu O, Ulusoy Severcan E, Alper H, Kutukculer N.

JMM Case Rep. 2018 Oct 15;5(10):e005167. doi: 10.1099/jmmcr.0.005167. eCollection 2018 Oct.

4.

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.

Gambineri E, Ciullini Mannurita S, Hagin D, Vignoli M, Anover-Sombke S, DeBoer S, Segundo GRS, Allenspach EJ, Favre C, Ochs HD, Torgerson TR.

Front Immunol. 2018 Nov 1;9:2411. doi: 10.3389/fimmu.2018.02411. eCollection 2018.

5.

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT).

J Allergy Clin Immunol. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11.

6.

Novel molecular defects associated with very early-onset inflammatory bowel.

Ciullini Mannurita S, Gambineri E.

Curr Opin Allergy Clin Immunol. 2017 Oct;17(5):317-324. doi: 10.1097/ACI.0000000000000393. Review.

PMID:
28817385
7.

Low IgE Is Insufficiently Sensitive to Guide Genetic Testing of STAT3 Gain-of-Function Mutations.

Tangye SG, Forbes LR, Leiding J, Preece K, Kumar AR, Gambineri E, Milner JD, Cooper MA, Seppänen M.

Clin Chem. 2017 Sep;63(9):1539-1540. doi: 10.1373/clinchem.2017.273458. Epub 2017 Jun 30. No abstract available.

8.

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.

Klemann C, Esquivel M, Magerus-Chatinet A, Lorenz MR, Fuchs I, Neveux N, Castelle M, Rohr J, da Cunha CB, Ebinger M, Kobbe R, Kremens B, Kollert F, Gambineri E, Lehmberg K, Seidel MG, Siepermann K, Voelker T, Schuster V, Goldacker S, Schwarz K, Speckmann C, Picard C, Fischer A, Rieux-Laucat F, Ehl S, Rensing-Ehl A, Neven B.

Haematologica. 2017 Feb;102(2):e52-e56. doi: 10.3324/haematol.2016.153411. Epub 2016 Oct 27. No abstract available.

9.

Timely follow-up of a GATA2 deficiency patient allows successful treatment.

Ciullini Mannurita S, Vignoli M, Colarusso G, Tucci F, Veltroni M, Frenos S, Tintori V, Aricò M, Bigley V, Collin M, Favre C, Gambineri E.

J Allergy Clin Immunol. 2016 Nov;138(5):1480-1483.e4. doi: 10.1016/j.jaci.2016.06.004. Epub 2016 Jul 29. No abstract available.

PMID:
27481672
10.

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

Völkl S, Rensing-Ehl A, Allgäuer A, Schreiner E, Lorenz MR, Rohr J, Klemann C, Fuchs I, Schuster V, von Bueren AO, Naumann-Bartsch N, Gambineri E, Siepermann K, Kobbe R, Nathrath M, Arkwright PD, Miano M, Stachel KD, Metzler M, Schwarz K, Kremer AN, Speckmann C, Ehl S, Mackensen A.

Blood. 2016 Jul 14;128(2):227-38. doi: 10.1182/blood-2015-11-685024. Epub 2016 Apr 20.

11.

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.

12.

Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.

Zama D, Cocchi I, Masetti R, Specchia F, Alvisi P, Gambineri E, Lima M, Pession A.

Ital J Pediatr. 2014 Oct 18;40:68. doi: 10.1186/s13052-014-0068-4.

13.

Langerhans cell histiocytosis in IPEX syndrome: possible role for natural regulatory T cells?

Sayar E, Uygun DF, Islek A, Hazar-Sayar E, Akkaya B, Vignoli M, Gambineri E, Yesilipek MA, Artan R.

Pediatr Allergy Immunol. 2014 Oct;25(6):601-3. doi: 10.1111/pai.12219. Epub 2014 Mar 16. No abstract available.

PMID:
24628744
14.

ICON: the early diagnosis of congenital immunodeficiencies.

Routes J, Abinun M, Al-Herz W, Bustamante J, Condino-Neto A, De La Morena MT, Etzioni A, Gambineri E, Haddad E, Kobrynski L, Le Deist F, Nonoyama S, Oliveira JB, Perez E, Picard C, Rezaei N, Sleasman J, Sullivan KE, Torgerson T.

J Clin Immunol. 2014 May;34(4):398-424. doi: 10.1007/s10875-014-0003-x. Epub 2014 Mar 12. Review.

PMID:
24619621
15.

Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature.

Moschese V, Martire B, Soresina A, Chini L, Graziani S, Monteferrario E, Bacchetta R, Cancrini C, Fiorilli M, Gambineri E, Pession A, Pignata C, Quinti I, Rondelli R, Rossi P, Ugazio AG, Plebani A, Pietrogrande MC.

J Biol Regul Homeost Agents. 2013 Oct-Dec;27(4):935-46. Review.

PMID:
24382174
16.

The evolution of cellular deficiency in GATA2 mutation.

Dickinson RE, Milne P, Jardine L, Zandi S, Swierczek SI, McGovern N, Cookson S, Ferozepurwalla Z, Langridge A, Pagan S, Gennery A, Heiskanen-Kosma T, Hämäläinen S, Seppänen M, Helbert M, Tholouli E, Gambineri E, Reykdal S, Gottfreðsson M, Thaventhiran JE, Morris E, Hirschfield G, Richter AG, Jolles S, Bacon CM, Hambleton S, Haniffa M, Bryceson Y, Allen C, Prchal JT, Dick JE, Bigley V, Collin M.

Blood. 2014 Feb 6;123(6):863-74. doi: 10.1182/blood-2013-07-517151. Epub 2013 Dec 17.

17.

Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Nademi Z, Slatter M, Gambineri E, Mannurita SC, Barge D, Hodges S, Bunn S, Thomas J, Haugk B, Hambleton S, Flood T, Cant A, Abinun M, Gennery A.

Bone Marrow Transplant. 2014 Feb;49(2):310-2. doi: 10.1038/bmt.2013.181. Epub 2013 Nov 25. No abstract available.

PMID:
24270390
18.

CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort.

Ciullini Mannurita S, Vignoli M, Bianchi L, Kondi A, Gerloni V, Breda L, Ten Cate R, Alessio M, Ravelli A, Falcini F, Gambineri E.

Eur J Hum Genet. 2014 Feb;22(2):197-201. doi: 10.1038/ejhg.2013.123. Epub 2013 Jun 12.

19.

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM.

J Allergy Clin Immunol. 2013 Jun;131(6):1611-23. doi: 10.1016/j.jaci.2012.11.054. Epub 2013 Mar 25.

20.

Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity.

Goudy K, Aydin D, Barzaghi F, Gambineri E, Vignoli M, Ciullini Mannurita S, Doglioni C, Ponzoni M, Cicalese MP, Assanelli A, Tommasini A, Brigida I, Dellepiane RM, Martino S, Olek S, Aiuti A, Ciceri F, Roncarolo MG, Bacchetta R.

Clin Immunol. 2013 Mar;146(3):248-61. doi: 10.1016/j.clim.2013.01.004. Epub 2013 Jan 24.

21.

Does NADPH oxidase deficiency cause artery dilatation in humans?

Loffredo L, Carnevale R, Sanguigni V, Plebani A, Rossi P, Pignata C, De Mattia D, Finocchi A, Martire B, Pietrogrande MC, Martino S, Gambineri E, Giardino G, Soresina AR, Martino F, Pignatelli P, Violi F.

Antioxid Redox Signal. 2013 Apr 20;18(12):1491-6. doi: 10.1089/ars.2012.4987. Epub 2012 Dec 7.

PMID:
23216310
22.

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

Magini P, Della Monica M, Uzielli ML, Mongelli P, Scarselli G, Gambineri E, Scarano G, Seri M.

Am J Med Genet A. 2012 Apr;158A(4):917-21. doi: 10.1002/ajmg.a.35265. Epub 2012 Mar 14.

PMID:
22419483
23.

Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome.

Barzaghi F, Passerini L, Gambineri E, Ciullini Mannurita S, Cornu T, Kang ES, Choe YH, Cancrini C, Corrente S, Ciccocioppo R, Cecconi M, Zuin G, Discepolo V, Sartirana C, Schmidtko J, Ikinciogullari A, Ambrosi A, Roncarolo MG, Olek S, Bacchetta R.

J Autoimmun. 2012 Feb;38(1):49-58. doi: 10.1016/j.jaut.2011.12.009. Epub 2012 Jan 20.

24.

Congenital and acquired neutropenias consensus guidelines on therapy and follow-up in childhood from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).

Fioredda F, Calvillo M, Bonanomi S, Coliva T, Tucci F, Farruggia P, Pillon M, Martire B, Ghilardi R, Ramenghi U, Renga D, Menna G, Pusiol A, Barone A, Gambineri E, Palazzi G, Casazza G, Lanciotti M, Dufour C; Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).

Am J Hematol. 2012 Feb;87(2):238-43. doi: 10.1002/ajh.22242. Epub 2011 Dec 27.

25.

Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

Zennaro D, Scala E, Pomponi D, Caprini E, Arcelli D, Gambineri E, Russo G, Mari A.

Clin Exp Immunol. 2012 Jan;167(1):120-8. doi: 10.1111/j.1365-2249.2011.04492.x.

26.

New frontiers in primary immunodeficiency disorders: immunology and beyond….

Gambineri E.

Cell Mol Life Sci. 2012 Jan;69(1):1-5. doi: 10.1007/s00018-011-0833-0. Epub 2011 Oct 19. Review. No abstract available.

PMID:
22009453
27.

Genetic disorders with immune dysregulation.

Gambineri E, Torgerson TR.

Cell Mol Life Sci. 2012 Jan;69(1):49-58. doi: 10.1007/s00018-011-0838-8. Epub 2011 Oct 9.

PMID:
21984607
28.

Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.

Passerini L, Di Nunzio S, Gregori S, Gambineri E, Cecconi M, Seidel MG, Cazzola G, Perroni L, Tommasini A, Vignola S, Guidi L, Roncarolo MG, Bacchetta R.

Eur J Immunol. 2011 Apr;41(4):1120-31. doi: 10.1002/eji.201040909. Epub 2011 Mar 14.

29.

Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells.

McMurchy AN, Gillies J, Allan SE, Passerini L, Gambineri E, Roncarolo MG, Bacchetta R, Levings MK.

J Allergy Clin Immunol. 2010 Dec;126(6):1242-51. doi: 10.1016/j.jaci.2010.09.001. Epub 2010 Oct 30.

PMID:
21036387
30.

The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies.

Tsuda M, Torgerson TR, Selmi C, Gambineri E, Carneiro-Sampaio M, Mannurita SC, Leung PS, Norman GL, Gershwin ME.

J Autoimmun. 2010 Nov;35(3):265-8. doi: 10.1016/j.jaut.2010.06.017. Epub 2010 Jul 22.

PMID:
20650610
31.

Defective FOXP3 expression in patients with acute Kawasaki disease and restoration by intravenous immunoglobulin therapy.

Olivito B, Taddio A, Simonini G, Massai C, Ciullini S, Gambineri E, de Martino M, Azzari C, Cimaz R.

Clin Exp Rheumatol. 2010 Jan-Feb;28(1 Suppl 57):93-7.

PMID:
20412712
32.

Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11).

Stagi S, Lapi E, Gambineri E, Manoni C, Genuardi M, Colarusso G, Conti C, Chiarelli F, de Martino M, Azzari C.

Eur J Endocrinol. 2010 Aug;163(2):329-37. doi: 10.1530/EJE-10-0167. Epub 2010 Jun 1.

PMID:
20516202
33.

Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome.

Colarusso G, Gambineri E, Lapi E, Casini T, Tucci F, Lippi F, Azzari C.

Pediatr Rep. 2010 Sep 6;2(2):e13. doi: 10.4081/pr.2010.e13.

34.

Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)).

Stagi S, Lapi E, Gambineri E, Salti R, Genuardi M, Colarusso G, Conti C, Jenuso R, Chiarelli F, Azzari C, de Martino M.

Clin Endocrinol (Oxf). 2010 Jun;72(6):839-44. doi: 10.1111/j.1365-2265.2009.03736.x. Epub 2009 Oct 26.

PMID:
19863572
35.

Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study.

Violi F, Sanguigni V, Carnevale R, Plebani A, Rossi P, Finocchi A, Pignata C, De Mattia D, Martire B, Pietrogrande MC, Martino S, Gambineri E, Soresina AR, Pignatelli P, Martino F, Basili S, Loffredo L.

Circulation. 2009 Oct 20;120(16):1616-22. doi: 10.1161/CIRCULATIONAHA.109.877191. Epub 2009 Oct 5.

PMID:
19805647
36.

Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis.

Olivito B, Simonini G, Ciullini S, Moriondo M, Betti L, Gambineri E, Cantarini L, De Martino M, Azzari C, Cimaz R.

J Rheumatol. 2009 Sep;36(9):2017-24. doi: 10.3899/jrheum.090066. Epub 2009 Jul 31.

PMID:
19648312
37.

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

Gambineri E, Perroni L, Passerini L, Bianchi L, Doglioni C, Meschi F, Bonfanti R, Sznajer Y, Tommasini A, Lawitschka A, Junker A, Dunstheimer D, Heidemann PH, Cazzola G, Cipolli M, Friedrich W, Janic D, Azzi N, Richmond E, Vignola S, Barabino A, Chiumello G, Azzari C, Roncarolo MG, Bacchetta R.

J Allergy Clin Immunol. 2008 Dec;122(6):1105-1112.e1. doi: 10.1016/j.jaci.2008.09.027. Epub 2008 Oct 25.

PMID:
18951619
38.

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.

de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, Feinberg J, von Bernuth H, Samarina A, Jannière L, Fieschi C, Stéphan JL, Boileau C, Lyonnet S, Jondeau G, Cormier-Daire V, Le Merrer M, Hoarau C, Lebranchu Y, Lortholary O, Chandesris MO, Tron F, Gambineri E, Bianchi L, Rodriguez-Gallego C, Zitnik SE, Vasconcelos J, Guedes M, Vitor AB, Marodi L, Chapel H, Reid B, Roifman C, Nadal D, Reichenbach J, Caragol I, Garty BZ, Dogu F, Camcioglu Y, Gülle S, Sanal O, Fischer A, Abel L, Stockinger B, Picard C, Casanova JL.

J Exp Med. 2008 Jul 7;205(7):1543-50. doi: 10.1084/jem.20080321.

39.

Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection.

Azzari C, Moriondo M, Indolfi G, Betti L, Gambineri E, de Martino M, Resti M.

J Med Virol. 2008 Jan;80(1):65-71.

PMID:
18041020
40.

IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.

Ochs HD, Gambineri E, Torgerson TR.

Immunol Res. 2007;38(1-3):112-21. Review.

PMID:
17917016
41.

Role of regulatory T cells and FOXP3 in human diseases.

Bacchetta R, Gambineri E, Roncarolo MG.

J Allergy Clin Immunol. 2007 Aug;120(2):227-35; quiz 236-7. Review.

PMID:
17666212
42.

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene.

Torgerson TR, Linane A, Moes N, Anover S, Mateo V, Rieux-Laucat F, Hermine O, Vijay S, Gambineri E, Cerf-Bensussan N, Fischer A, Ochs HD, Goulet O, Ruemmele FM.

Gastroenterology. 2007 May;132(5):1705-17. Epub 2007 Feb 23.

PMID:
17484868
43.

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG.

J Clin Invest. 2006 Jun;116(6):1713-22.

44.

Immunodeficiencies with autoimmune consequences.

Notarangelo LD, Gambineri E, Badolato R.

Adv Immunol. 2006;89:321-70. Review.

PMID:
16682278
45.

A new case of IPEX receiving bone marrow transplantation.

Mazzolari E, Forino C, Fontana M, D'Ippolito C, Lanfranchi A, Gambineri E, Ochs H, Badolato R, Notarangelo LD.

Bone Marrow Transplant. 2005 May;35(10):1033-4. No abstract available.

PMID:
15778724
46.

Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome).

Azzari C, Gambineri E, Resti M, Moriondo M, Betti L, Saldias LR, G Gelli AM, Vierucci A.

Vaccine. 2005 Feb 25;23(14):1668-71.

PMID:
15705470
47.

Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis.

Lee WI, Zhu Q, Gambineri E, Jin Y, Welcher AA, Ochs HD.

J Allergy Clin Immunol. 2003 Nov;112(5):958-64.

PMID:
14610488
49.

Lack of transmission of TT virus through immunoglobulins.

Azzari C, Resti M, Moriondo M, Gambineri E, Rossi ME, Novembre E, Vierucci A.

Transfusion. 2001 Dec;41(12):1505-8.

PMID:
11778064

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