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Items: 1 to 50 of 321

1.

Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.

De Rose DU, Giliani S, Notarangelo LD, Lougaris V, Lanfranchi A, Moratto D, Martire B, Specchia F, Tommasini A, Plebani A, Badolato R.

Clin Immunol. 2018 Mar 13;191:75-80. doi: 10.1016/j.clim.2018.03.005. [Epub ahead of print]

PMID:
29548898
2.

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
3.

Progressive severe B cell and NK cell deficiency with T cell senescence in adult CD40L deficiency.

Lougaris V, Lanzi G, Baronio M, Gazzurelli L, Vairo D, Lorenzini T, Badolato R, Notarangelo LD, Boschi A, Moratto D, Plebani A.

Clin Immunol. 2018 May;190:11-14. doi: 10.1016/j.clim.2018.02.008. Epub 2018 Feb 21. No abstract available.

PMID:
29476811
4.

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
5.

Electrical impedance tomography in children with community acquired pneumonia: preliminary data.

Mazzoni MB, Perri A, Plebani AM, Ferrari S, Amelio G, Rocchi A, Consonni D, Milani GP, Fossali EF.

Respir Med. 2017 Sep;130:9-12. doi: 10.1016/j.rmed.2017.07.001. Epub 2017 Jul 4.

PMID:
29206639
6.

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
7.

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena MT, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD.

Front Immunol. 2017 Oct 10;8:1244. doi: 10.3389/fimmu.2017.01244. eCollection 2017.

8.

Translation, reliability, and clinical utility of the Melbourne Assessment 2.

Gerber CN, Plebani A, Labruyère R.

Disabil Rehabil. 2017 Oct 12:1-9. doi: 10.1080/09638288.2017.1386726. [Epub ahead of print]

PMID:
29025283
9.

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
10.

Response to the Letter to the Editor Regarding "Kinetics of Radiological Response of Thoracic Invasive Fungal Disease in Chronic Granulomatous Disease".

Bondioni MP, Lougaris V, Plebani A.

J Clin Immunol. 2017 Nov;37(8):744-745. doi: 10.1007/s10875-017-0450-2. Epub 2017 Oct 8. No abstract available.

PMID:
28988408
11.

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena M, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD.

Front Immunol. 2017 Jul 17;8:798. doi: 10.3389/fimmu.2017.00798. eCollection 2017. Erratum in: Front Immunol. 2017 Oct 10;8:1244.

12.

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
13.

Beta2 integrins are required for follicular helper T cell differentiation in humans.

Gerosa J, Lougaris V, Baronio M, Plebani A, Cicalese MP, Fousteri G.

Clin Immunol. 2017 Jul;180:60-62. doi: 10.1016/j.clim.2017.04.002. Epub 2017 Apr 6. No abstract available.

PMID:
28390967
14.

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
15.

Shift from intravenous or 16% subcutaneous replacement therapy to 20% subcutaneous immunoglobulin in patients with primary antibody deficiencies.

Canessa C, Iacopelli J, Pecoraro A, Spadaro G, Matucci A, Milito C, Vultaggio A, Agostini C, Cinetto F, Danieli MG, Gambini S, Marasco C, Trizzino A, Vacca A, De Mattia D, Martire B, Plebani A, Di Gioacchino M, Gatta A, Finocchi A, Licciardi F, Martino S, De Carli M, Moschese V, Azzari C.

Int J Immunopathol Pharmacol. 2017 Mar;30(1):73-82. doi: 10.1177/0394632016681577. Epub 2016 Dec 7.

16.

NFKB1 regulates human NK cell maturation and effector functions.

Lougaris V, Patrizi O, Baronio M, Tabellini G, Tampella G, Damiati E, Frede N, van der Meer JWM, Fliegauf M, Grimbacher B, Parolini S, Plebani A.

Clin Immunol. 2017 Feb;175:99-108. doi: 10.1016/j.clim.2016.11.012. Epub 2016 Dec 3.

PMID:
27923702
17.

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Gallo V, Dotta L, Giardino G, Cirillo E, Lougaris V, D'Assante R, Prandini A, Consolini R, Farrow EG, Thiffault I, Saunders CJ, Leonardi A, Plebani A, Badolato R, Pignata C.

Front Immunol. 2016 Nov 7;7:466. eCollection 2016.

18.

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
19.

Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome.

Lougaris V, Facchini E, Baronio M, Lorenzini T, Moratto D, Specchia F, Plebani A.

Clin Immunol. 2016 Dec;173:181-183. doi: 10.1016/j.clim.2016.10.019. Epub 2016 Nov 5. No abstract available.

PMID:
27825976
20.

Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.

Bronson PG, Chang D, Bhangale T, Seldin MF, Ortmann W, Ferreira RC, Urcelay E, Pereira LF, Martin J, Plebani A, Lougaris V, Friman V, Freiberger T, Litzman J, Thon V, Pan-Hammarström Q, Hammarström L, Graham RR, Behrens TW.

Nat Genet. 2016 Nov;48(11):1425-1429. doi: 10.1038/ng.3675. Epub 2016 Oct 10.

21.

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
22.

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
23.

Early and late B-cell developmental impairment in nuclear factor kappa B, subunit 1-mutated common variable immunodeficiency disease.

Lougaris V, Moratto D, Baronio M, Tampella G, van der Meer JWM, Badolato R, Fliegauf M, Plebani A.

J Allergy Clin Immunol. 2017 Jan;139(1):349-352.e1. doi: 10.1016/j.jaci.2016.05.045. Epub 2016 Jul 16. No abstract available.

PMID:
27555455
24.

Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency.

Prandini A, Salvi V, Colombo F, Moratto D, Lorenzi L, Vermi W, De Francesco MA, Notarangelo LD, Porta F, Plebani A, Facchetti F, Sozzani S, Badolato R.

Blood. 2016 Jun 30;127(26):3382-6. doi: 10.1182/blood-2015-06-650689. Epub 2016 May 13.

25.

Using a high-flow nasal cannula provided superior results to low-flow oxygen delivery in moderate to severe bronchiolitis.

Milani GP, Plebani AM, Arturi E, Brusa D, Esposito S, Dell'Era L, Laicini EA, Consonni D, Agostoni C, Fossali EF.

Acta Paediatr. 2016 Aug;105(8):e368-72. doi: 10.1111/apa.13444. Epub 2016 May 16. Erratum in: Acta Paediatr. 2017 Jan;106(1):185.

PMID:
27102726
26.

p85α is an intrinsic regulator of human natural killer cell effector functions.

Lougaris V, Patrizi O, Baronio M, Tabellini G, Tampella G, Lanzi G, Salvini F, Trizzino A, Parolini S, Plebani A.

J Allergy Clin Immunol. 2016 Aug;138(2):605-608.e3. doi: 10.1016/j.jaci.2016.01.026. Epub 2016 Mar 23. No abstract available.

PMID:
27016802
27.

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.

28.

Exocrine Pancreatic Insufficiency after Roux-en-Y gastric bypass.

Borbély Y, Plebani A, Kröll D, Ghisla S, Nett PC.

Surg Obes Relat Dis. 2016 May;12(4):790-794. doi: 10.1016/j.soard.2015.10.084. Epub 2015 Oct 31.

PMID:
26965152
29.

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
30.

Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.

Abolhassani H, Vitali M, Lougaris V, Giliani S, Parvaneh N, Parvaneh L, Mirminachi B, Cheraghi T, Khazaei H, Mahdaviani SA, Kiaei F, Tavakolinia N, Mohammadi J, Negahdari B, Rezaei N, Hammarstrom L, Plebani A, Aghamohammadi A.

Expert Rev Clin Immunol. 2016;12(4):479-86. doi: 10.1586/1744666X.2016.1139451. Epub 2016 Feb 24.

PMID:
26910880
31.

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
32.

Reduced germinal center follicular helper T cells but normal follicular regulatory T cells in the tonsils of a patient with a mutation in the PI3KR1 gene.

Di Fonte R, Baronio M, Plebani A, Lougaris V, Fousteri G.

Clin Immunol. 2016 Mar;164:43-4. doi: 10.1016/j.clim.2016.01.016. Epub 2016 Jan 28. No abstract available.

PMID:
26827886
33.

Proteus syndrome: evaluation of the immunological profile.

Lougaris V, Salpietro V, Cutrupi M, Baronio M, Moratto D, Pizzino MR, Mankad K, Briuglia S, Salpietro C, Plebani A.

Orphanet J Rare Dis. 2016 Jan 13;11:3. doi: 10.1186/s13023-015-0381-z.

34.

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
35.

Burden of Skin Disease in Selective IgA Deficiency and Common Variable Immunodeficiency.

Gualdi G, Lougaris V, Baronio M, Vitali M, Tampella G, Moratto D, Tanghetti P, Monari P, Calzavara-Pinton P, Plebani A.

J Investig Allergol Clin Immunol. 2015;25(5):369-71. No abstract available.

36.

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
37.

Monoallelic BAFFR P21R/H159Y Mutations and Familiar Primary Antibody Deficiencies.

Lougaris V, Baronio M, Moratto D, Cardinale F, Plebani A.

J Clin Immunol. 2016 Jan;36(1):1-3. doi: 10.1007/s10875-015-0217-6. Epub 2015 Nov 27. No abstract available.

PMID:
26613719
38.

The Tec Kinase-Regulated Phosphoproteome Reveals a Mechanism for the Regulation of Inhibitory Signals in Murine Macrophages.

Tampella G, Kerns HM, Niu D, Singh S, Khim S, Bosch KA, Garrett ME, Moguche A, Evans E, Browning B, Jahan TA, Nacht M, Wolf-Yadlin A, Plebani A, Hamerman JA, Rawlings DJ, James RG.

J Immunol. 2015 Jul 1;195(1):246-56. doi: 10.4049/jimmunol.1403238. Epub 2015 May 29.

39.

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

Lougaris V, Faletra F, Lanzi G, Vozzi D, Marcuzzi A, Valencic E, Piscianz E, Bianco A, Girardelli M, Baronio M, Loganes C, Fasth A, Salvini F, Trizzino A, Moratto D, Facchetti F, Giliani S, Plebani A, Tommasini A.

Clin Immunol. 2015 Jul;159(1):33-6. doi: 10.1016/j.clim.2015.04.014. Epub 2015 May 1. No abstract available.

PMID:
25939554
40.

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.

41.

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
42.

[A rare differential diagnosis of acute appendicitis].

Holtz A, Plebani A, Talsky N, Itin H, Letta C.

Chirurg. 2015 Aug;86(8):797-9. doi: 10.1007/s00104-014-2953-1. German. No abstract available.

PMID:
25636637
43.

Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease.

Lougaris V, Tabellini G, Vitali M, Baronio M, Patrizi O, Tampella G, Biasini A, Moratto D, Parolini S, Plebani A.

J Allergy Clin Immunol. 2015 Jun;135(6):1641-3. doi: 10.1016/j.jaci.2014.11.038. Epub 2015 Jan 17. No abstract available.

PMID:
25605273
44.

The change in Ig regulation from children to adults disconnects the correlation with the 3'RR hs1.2 polymorphism.

Serone E, Daleno C, Principi N, Porretti L, Iacoacci V, Gargioli C, Magrini A, Massoud R, D'Addabbo P, Cattalini M, Giambra V, Plebani A, Esposito S, Frezza D.

BMC Immunol. 2014 Nov 13;15:45. doi: 10.1186/s12865-014-0045-0.

45.

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.

Notarangelo LD, Savoldi G, Cavagnini S, Bennato V, Vasile S, Pilotta A, Plebani A, Porta F.

Ital J Pediatr. 2014 Nov 14;40:80. doi: 10.1186/s13052-014-0080-8.

46.

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
47.

A CXCR1 haplotype hampers HIV-1 matrix protein p17 biological activity.

Giagulli C, Caccuri F, Cignarella F, Lougaris V, Martorelli D, Bugatti A, Rusnati M, Dolcetti R, Vitali M, Plebani A, Fiorentini S, Caruso A.

AIDS. 2014 Oct 23;28(16):2355-64. doi: 10.1097/QAD.0000000000000423.

PMID:
25121556
48.

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.

49.

Profound T-cell defects in Dubowitz syndrome.

Lougaris V, Baronio M, Vitali M, Gualdi G, Tampella G, Moratto D, Cattalini M, Pilotta A, Buzi F, Calzavara-Pinton P, Plebani A.

Pediatr Allergy Immunol. 2014 Aug;25(5):511-3. doi: 10.1111/pai.12238. Epub 2014 Jun 5. No abstract available.

PMID:
24899539
50.

Cardiomyopathy in a male patient with neutropenia and growth delay.

Folsi V, Miglietti N, Lombardi A, Boccacci S, Utyatnikova T, Donati C, Squassabia L, Gazzola L, Bosio I, Borghi A, Grassi V, Notarangelo LD, Plebani A.

Ital J Pediatr. 2014 May 12;40:45. doi: 10.1186/1824-7288-40-45.

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