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Items: 1 to 50 of 79

1.

Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study.

Cirillo E, Del Giudice E, Micheli R, Cappellari AM, Soresina A, Dellepiane RM, Pietrogrande MC, Dell'Era L, Specchia F, Pession A, Plebani A, Pignata C.

Eur J Neurol. 2018 Feb 28. doi: 10.1111/ene.13606. [Epub ahead of print]

PMID:
29489040
2.

Chronic Granulomatous Disease in children: a single center experience.

Beghin A, Comini M, Soresina A, Imberti L, Zucchi M, Plebani A, Montanelli A, Porta F, Lanfranchi A.

Clin Immunol. 2018 Mar;188:12-19. doi: 10.1016/j.clim.2017.11.016. Epub 2017 Dec 7.

PMID:
29223406
3.

Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.

Lougaris V, Chou J, Baronio M, Gazzurelli L, Lorenzini T, Soresina A, Moratto D, Badolato R, Seleman M, Bellettato M, Geha RS, Plebani A.

Clin Immunol. 2018 Mar;188:20-22. doi: 10.1016/j.clim.2017.11.008. Epub 2017 Nov 21. No abstract available.

PMID:
29170023
4.

Neurovisual Assessment in Children with Ataxia Telangiectasia.

Iodice A, Galli J, Molinaro A, Franzoni A, Micheli R, Pinelli L, Plebani A, Soresina A, Fazzi E.

Neuropediatrics. 2018 Feb;49(1):26-34. doi: 10.1055/s-0037-1607216. Epub 2017 Oct 9.

PMID:
28992644
5.

In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.

Menotta M, Biagiotti S, Orazi S, Rossi L, Chessa L, Leuzzi V, D'Agnano D, Plebani A, Soresina A, Magnani M.

Mol Cell Biochem. 2018 Jan;438(1-2):153-166. doi: 10.1007/s11010-017-3122-x. Epub 2017 Jul 25.

PMID:
28744812
6.

ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.

Menotta M, Biagiotti S, Spapperi C, Orazi S, Rossi L, Chessa L, Leuzzi V, D'Agnano D, Soresina A, Micheli R, Magnani M.

Orphanet J Rare Dis. 2017 Jul 5;12(1):126. doi: 10.1186/s13023-017-0669-2.

7.

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Rinaldi B, Vaisfeld A, Amarri S, Baldo C, Gobbi G, Magini P, Melli E, Neri G, Novara F, Pippucci T, Rizzi R, Soresina A, Zampini L, Zuffardi O, Crimi M.

Orphanet J Rare Dis. 2017 Apr 11;12(1):69. doi: 10.1186/s13023-017-0606-4. Review.

8.

Ataxia-telangiectasia: Immunodeficiency and survival.

van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, van der Flier M, Haaxma CA, Morio T, Rawat A, Schoenaker MHD, Soresina A, Taylor AMR, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP.

Clin Immunol. 2017 May;178:45-55. doi: 10.1016/j.clim.2017.01.009. Epub 2017 Jan 24.

9.

Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

Tabellini G, Vairo D, Scomodon O, Tamassia N, Ferraro RM, Patrizi O, Gasperini S, Soresina A, Giardino G, Pignata C, Lougaris V, Plebani A, Dotta L, Cassatella MA, Parolini S, Badolato R.

J Allergy Clin Immunol. 2017 Aug;140(2):553-564.e4. doi: 10.1016/j.jaci.2016.10.051. Epub 2017 Jan 6.

PMID:
28069426
10.

Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.

Piane M, Molinaro A, Soresina A, Costa S, Maffeis M, Germani A, Pinelli L, Meschini R, Plebani A, Chessa L, Micheli R.

J Neurol Sci. 2016 Dec 15;371:48-53. doi: 10.1016/j.jns.2016.10.014. Epub 2016 Oct 13.

PMID:
27871447
11.

[The contribution of the Italian Association of paediatric haematology and oncology (AIEOP)].

Rondelli R, Jankovic M, Soresina A, Valsecchi MG, De Rosa M, Cuttini M, Haupt R, Aricò M, Bisogno G, Locatelli F, Magnani C, Merletti F, Zecca M, Pession A.

Epidemiol Prev. 2016 Sep-Oct;40(5Suppl2):23-27. Italian.

12.

Early Identification of Lung Fungal Infections in Chronic Granulomatous Disease (CGD) Using Multidetector Computer Tomography.

Bondioni MP, Lougaris V, Di Gaetano G, Lorenzini T, Soresina A, Laffranchi F, Gatta D, Plebani A.

J Clin Immunol. 2017 Jan;37(1):36-41. doi: 10.1007/s10875-016-0342-x. Epub 2016 Oct 21.

PMID:
27766541
13.

Impaired platelet activation in patients with hereditary deficiency of p47phox.

Carnevale R, Loffredo L, Nocella C, Bartimoccia S, Sanguigni V, Soresina A, Plebani A, Azzari C, Martire B, Pignata C, Violi F.

Br J Haematol. 2018 Feb;180(3):454-456. doi: 10.1111/bjh.14347. Epub 2016 Oct 10. No abstract available.

PMID:
27723093
14.
15.

Safety and Efficacy of Gadoxetate Disodium-Enhanced Liver MRI in Pediatric Patients Aged >2 Months to <18 Years-Results of a Retrospective, Multicenter Study.

Geller J, Kasahara M, Martinez M, Soresina A, Kashanian F, Endrikat J.

Magn Reson Insights. 2016 Jul 21;9:21-8. doi: 10.4137/MRI.S39091. eCollection 2016.

16.

Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease.

Dotta L, Scomodon O, Padoan R, Timpano S, Plebani A, Soresina A, Lougaris V, Concolino D, Nicoletti A, Giardino G, Licari A, Marseglia G, Pignata C, Tamassia N, Facchetti F, Vairo D, Badolato R.

Data Brief. 2016 Feb 23;7:311-5. doi: 10.1016/j.dib.2016.02.040. eCollection 2016 Jun.

17.

NOX 5 is expressed in platelets from patients with chronic granulomatous disease.

Bartimoccia S, Carnevale R, Sanguigni V, De Falco E, Frati G, Loffredo L, Plebani A, Soresina A, Pignatelli P, Violi F.

Thromb Haemost. 2016 Jul 4;116(1):198-200. doi: 10.1160/TH15-12-0999. Epub 2016 Mar 10. No abstract available.

PMID:
26963053
18.

Reduction of CRKL expression in patients with partial DiGeorge syndrome is associated with impairment of T-cell functions.

Giacomelli M, Kumar R, Soresina A, Tamassia N, Lorenzini T, Moratto D, Gasperini S, Cassatella M, Plebani A, Lougaris V, Badolato R.

J Allergy Clin Immunol. 2016 Jul;138(1):229-240.e3. doi: 10.1016/j.jaci.2015.10.051. Epub 2016 Feb 11.

PMID:
26875746
19.

Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease.

Dotta L, Scomodon O, Padoan R, Timpano S, Plebani A, Soresina A, Lougaris V, Concolino D, Nicoletti A, Giardino G, Licari A, Marseglia G, Pignata C, Tamassia N, Facchetti F, Vairo D, Badolato R.

Clin Immunol. 2016 Mar;164:1-9. doi: 10.1016/j.clim.2015.12.010. Epub 2015 Dec 28.

PMID:
26732859
20.

Correlation of bone marrow abnormalities, peripheral lymphocyte subsets and clinical features in uncomplicated common variable immunodeficiency (CVID) patients.

Lougaris V, Baronio M, Masneri S, Lorenzini T, Cattivelli K, Tampella G, Soresina A, Moratto D, Plebani A.

Clin Immunol. 2016 Feb;163:10-3. doi: 10.1016/j.clim.2015.12.006. Epub 2015 Dec 11.

PMID:
26686461
21.

Nutritional Status in Agammaglobulinemia: An Italian Multicenter Study.

Dellepiane RM, Dell'Era L, Beilis LV, Pavesi P, Raimondi M, Soresina A, Lougaris V, Carrabba M, Martire B, Martino S, Russo G, Patuzzo G, Pignata C, Spadaro G, Gallizzi R, Duse M, Specchia FG, Moschese V, Marseglia GL, Pietrogrande MC, Bedogni G, Agostoni C.

J Clin Immunol. 2015 Oct;35(7):595-7. doi: 10.1007/s10875-015-0195-8. Epub 2015 Sep 18. No abstract available.

PMID:
26384979
22.

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia.

Leuzzi V, Micheli R, D'Agnano D, Molinaro A, Venturi T, Plebani A, Soresina A, Marini M, Ferremi Leali P, Quinti I, Pietrogrande MC, Finocchi A, Fazzi E, Chessa L, Magnani M.

Neurol Neuroimmunol Neuroinflamm. 2015 Apr 9;2(3):e98. doi: 10.1212/NXI.0000000000000098. eCollection 2015 Jun.

23.

Gastrointestinal Pathologic Abnormalities in Pediatric- and Adult-Onset Common Variable Immunodeficiency.

Lougaris V, Ravelli A, Villanacci V, Salemme M, Soresina A, Fuoti M, Lanzarotto F, Lanzini A, Plebani A, Bassotti G.

Dig Dis Sci. 2015 Aug;60(8):2384-9. doi: 10.1007/s10620-015-3638-4. Epub 2015 Mar 28.

PMID:
25821101
24.

Subcutaneous immunoglobulin replacement therapy in patients with primary immunodeficiency in routine clinical practice: the VISPO prospective multicenter study.

Vultaggio A, Azzari C, Milito C, Finocchi A, Toppino C, Spadaro G, Trizzino A, Baldassarre M, Paganelli R, Moschese V, Soresina A, Matucci A.

Clin Drug Investig. 2015 Mar;35(3):179-85. doi: 10.1007/s40261-015-0270-1.

25.

Acral lympho-histiocytic dermatitis in X-linked agammaglobulinemia: a case report showing clonal CD8(+) T cells with indolent clinical behaviour.

Gualdi G, Lorenzi L, Arisi M, Maffeis M, Soresina A, Marocolo D, Plebani A, Calzavara-Pinton PG, Facchetti F.

J Eur Acad Dermatol Venereol. 2016 Mar;30(3):461-3. doi: 10.1111/jdv.12839. Epub 2014 Nov 11. No abstract available.

PMID:
25388899
26.

Different degrees of NADPH oxidase 2 regulation and in vivo platelet activation: lesson from chronic granulomatous disease.

Carnevale R, Loffredo L, Sanguigni V, Plebani A, Rossi P, Pignata C, Martire B, Finocchi A, Pietrogrande MC, Azzari C, Soresina AR, Martino S, Cirillo E, Martino F, Pignatelli P, Violi F.

J Am Heart Assoc. 2014 Jun 27;3(3):e000920. doi: 10.1161/JAHA.114.000920.

27.

Clinical features and follow-up in patients with 22q11.2 deletion syndrome.

Cancrini C, Puliafito P, Digilio MC, Soresina A, Martino S, Rondelli R, Consolini R, Ruga EM, Cardinale F, Finocchi A, Romiti ML, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MC, Marino B, Ugazio AG, Plebani A, Rossi P; Italian Network for Primary Immunodeficiencies.

J Pediatr. 2014 Jun;164(6):1475-80.e2. doi: 10.1016/j.jpeds.2014.01.056. Epub 2014 Mar 20.

PMID:
24657119
28.

Bruton tyrosine kinase mediates TLR9-dependent human dendritic cell activation.

Lougaris V, Baronio M, Vitali M, Tampella G, Cattalini M, Tassone L, Soresina A, Badolato R, Plebani A.

J Allergy Clin Immunol. 2014 Jun;133(6):1644-50.e4. doi: 10.1016/j.jaci.2013.12.1085. Epub 2014 Mar 4.

PMID:
24612681
29.

Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.

Chessa L, Leuzzi V, Plebani A, Soresina A, Micheli R, D'Agnano D, Venturi T, Molinaro A, Fazzi E, Marini M, Ferremi Leali P, Quinti I, Cavaliere FM, Girelli G, Pietrogrande MC, Finocchi A, Tabolli S, Abeni D, Magnani M.

Orphanet J Rare Dis. 2014 Jan 9;9:5. doi: 10.1186/1750-1172-9-5.

30.

Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.

Cirillo E, Giardino G, Gallo V, Puliafito P, Azzari C, Bacchetta R, Cardinale F, Cicalese MP, Consolini R, Martino S, Martire B, Molinatto C, Plebani A, Scarano G, Soresina A, Cancrini C, Rossi P, Digilio MC, Pignata C.

BMC Med Genet. 2014 Jan 2;15:1. doi: 10.1186/1471-2350-15-1.

31.

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
32.

Reduced atherosclerotic burden in subjects with genetically determined low oxidative stress.

Violi F, Pignatelli P, Pignata C, Plebani A, Rossi P, Sanguigni V, Carnevale R, Soresina A, Finocchi A, Cirillo E, Catasca E, Angelico F, Loffredo L.

Arterioscler Thromb Vasc Biol. 2013 Feb;33(2):406-12. doi: 10.1161/ATVBAHA.112.300438. Epub 2013 Jan 3.

33.

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
34.

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

Zannolli R, Buoni S, Betti G, Salvucci S, Plebani A, Soresina A, Pietrogrande MC, Martino S, Leuzzi V, Finocchi A, Micheli R, Rossi LN, Brusco A, Misiani F, Fois A, Hayek J, Kelly C, Chessa L.

Mov Disord. 2012 Sep 1;27(10):1312-6. doi: 10.1002/mds.25126. Epub 2012 Aug 23.

PMID:
22927201
35.

B cell responses to CpG correlate with CXCL16 expression levels in common variable immunodeficiency.

Lougaris V, Baronio M, Vitali M, Tampella G, Soresina A, Badolato R, Plebani A.

ScientificWorldJournal. 2012;2012:960219. doi: 10.1100/2012/960219. Epub 2012 Feb 1.

36.

Efficacy and safety of subcutaneous vivaglobin® replacement therapy in previously untreated patients with primary immunodeficiency: a prospective, multicenter study.

Borte M, Quinti I, Soresina A, Fernández-Cruz E, Ritchie B, Schmidt DS, McCusker C.

J Clin Immunol. 2011 Dec;31(6):952-61. doi: 10.1007/s10875-011-9588-5. Epub 2011 Sep 20.

PMID:
21932110
37.

Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency.

Tampella G, Baronio M, Vitali M, Soresina A, Badolato R, Giliani S, Plebani A, Lougaris V.

J Investig Allergol Clin Immunol. 2011;21(5):348-53.

38.

Use of linezolid in infants and children: a retrospective multicentre study of the Italian Society for Paediatric Infectious Diseases.

Garazzino S, Krzysztofiak A, Esposito S, Castagnola E, Plebani A, Galli L, Cellini M, Lipreri R, Scolfaro C, Bertaina C, Calitri C, Bozzola E, Lancella L, Quondamcarlo A, Bosis S, Pugni L, Losurdo G, Soresina A, De Gaudio M, Mariotti I, Mancini L, Gabiano C, Tovo PA.

J Antimicrob Chemother. 2011 Oct;66(10):2393-7. doi: 10.1093/jac/dkr285. Epub 2011 Jul 15.

PMID:
21764828
39.

Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study.

Quinti I, Soresina A, Guerra A, Rondelli R, Spadaro G, Agostini C, Milito C, Trombetta AC, Visentini M, Martini H, Plebani A, Fiorilli M; IPINet Investigators.

J Clin Immunol. 2011 Jun;31(3):315-22. doi: 10.1007/s10875-011-9511-0. Epub 2011 Mar 2.

PMID:
21365217
40.

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

Mazza C, Buzi F, Ortolani F, Vitali A, Notarangelo LD, Weber G, Bacchetta R, Soresina A, Lougaris V, Greggio NA, Taddio A, Pasic S, de Vroede M, Pac M, Kilic SS, Ozden S, Rusconi R, Martino S, Capalbo D, Salerno M, Pignata C, Radetti G, Maggiore G, Plebani A, Notarangelo LD, Badolato R.

Clin Immunol. 2011 Apr;139(1):6-11. doi: 10.1016/j.clim.2010.12.021. Epub 2011 Feb 3.

PMID:
21295522
41.

Inherited human gp91phox deficiency is associated with impaired isoprostane formation and platelet dysfunction.

Pignatelli P, Carnevale R, Di Santo S, Bartimoccia S, Sanguigni V, Lenti L, Finocchi A, Mendolicchio L, Soresina AR, Plebani A, Violi F.

Arterioscler Thromb Vasc Biol. 2011 Feb;31(2):423-34. doi: 10.1161/ATVBAHA.110.217885. Epub 2010 Nov 11.

42.

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.

Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnik Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB.

Blood. 2011 Jan 6;117(1):53-62. doi: 10.1182/blood-2010-06-284935. Epub 2010 Oct 6. Erratum in: Blood. 2011 Nov 3;118(18):5060. Pachlopnick-Schmid, Jana [corrected to Pachlopnik Schmid, Jana].

43.

Common variable immunodeficiency: computed tomography evaluation of bronchopulmonary changes including nodular lesions in 40 patients. Correlation with clinical and immunological data.

Bondioni MP, Soresina A, Lougaris V, Gatta D, Plebani A, Maroldi R.

J Comput Assist Tomogr. 2010 May-Jun;34(3):395-401. doi: 10.1097/RCT.0b013e3181cad9da.

PMID:
20498543
44.

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.

45.

Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study.

Di Matteo G, Giordani L, Finocchi A, Ventura A, Chiriaco M, Blancato J, Sinibaldi C, Plebani A, Soresina A, Pignata C, Dellepiane RM, Trizzino A, Cossu F, Rondelli R, Rossi P, De Mattia D, Martire B; IPINET (Italian Network for Primary Immunodeficiencies).

Mol Immunol. 2009 Jun;46(10):1935-41. doi: 10.1016/j.molimm.2009.03.016. Epub 2009 May 1.

PMID:
19410294
46.

Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.

Tassone L, Notarangelo LD, Bonomi V, Savoldi G, Sensi A, Soresina A, Smith CI, Porta F, Plebani A, Notarangelo LD, Badolato R.

J Allergy Clin Immunol. 2009 May;123(5):1170-3, 1173.e1-3. doi: 10.1016/j.jaci.2008.12.1133. Epub 2009 Mar 24. No abstract available.

PMID:
19321197
47.

The quality of life of children and adolescents with X-linked agammaglobulinemia.

Soresina A, Nacinovich R, Bomba M, Cassani M, Molinaro A, Sciotto A, Martino S, Cardinale F, De Mattia D, Putti C, Dellepiane RM, Felici L, Parrinello G, Neri F, Plebani A; Italian Network for Primary Immunodeficiencies.

J Clin Immunol. 2009 Jul;29(4):501-7. doi: 10.1007/s10875-008-9270-8. Epub 2008 Dec 17.

PMID:
19089603
48.

Unrelated hematopoietic stem cell transplantation for Cernunnos-XLF deficiency.

Faraci M, Lanino E, Micalizzi C, Morreale G, Di Martino D, Banov L, Comoli P, Locatelli F, Soresina A, Plebani A.

Pediatr Transplant. 2009 Sep;13(6):785-9. doi: 10.1111/j.1399-3046.2008.01028.x. Epub 2008 Nov 26.

PMID:
19067926
49.

Autosomal recessive agammaglobulinemia: novel insights from mutations in Ig-beta.

Lougaris V, Ferrari S, Cattalini M, Soresina A, Plebani A.

Curr Allergy Asthma Rep. 2008 Sep;8(5):404-8. Review.

PMID:
18682105
50.

Sensorineural hearing loss in primary antibody deficiency disorders.

Berlucchi M, Soresina A, Redaelli De Zinis LO, Valetti L, Valotti R, Lougaris V, Meini A, Salsi D, Nicolai P, Plebani A.

J Pediatr. 2008 Aug;153(2):293-6. doi: 10.1016/j.jpeds.2008.03.008.

PMID:
18639734

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