Publications by authors named "Raffaele Badolato"

100Publications

Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ.

Clin Immunol 2020 Oct 16;219:108543. Epub 2020 Jul 16.

Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1016/j.clim.2020.108543DOI Listing
October 2020

Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency.

Front Immunol 2020 26;11:1161. Epub 2020 Jun 26.

Department of Clinical and Experimental Sciences, Department of Pediatrics, A. Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.3389/fimmu.2020.01161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7333364PMC
June 2020

Immunologic characterization of a immunosuppressed multiple sclerosis patient that recovered from SARS-CoV-2 infection.

J Neuroimmunol 2020 08 29;345:577282. Epub 2020 May 29.

Centro di Ricerca Emato-oncologica AIL (CREA), Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jneuroim.2020.577282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7256606PMC
August 2020

Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutations.

Neurol Sci 2020 Aug 28;41(8):2271-2274. Epub 2020 Apr 28.

Institute of Pediatrics, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1007/s10072-020-04417-2DOI Listing
August 2020

Two X-linked agammaglobulinemia patients develop pneumonia as COVID-19 manifestation but recover.

Pediatr Allergy Immunol 2020 Jul 19;31(5):565-569. Epub 2020 May 19.

Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1111/pai.13263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264678PMC
July 2020

Asymptomatic case of Covid-19 in an infant with cystic fibrosis.

J Cyst Fibros 2020 05 13;19(3):e18. Epub 2020 Apr 13.

Department of Pediatrics, Regional support Centre for Cystic Fibrosis, Children's Hospital - ASST Spedali Civili Pz.le Spedali Civili, University of Brescia, 1 - 25123, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili and A. Nocivelli Institute of Molecular Medicine, Brescia, Italy.

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http://dx.doi.org/10.1016/j.jcf.2020.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7152906PMC
May 2020

Corrigendum to "Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency" [Immunol. Lett. 214 (2019) 52-54].

Immunol Lett 2020 Apr 12. Epub 2020 Apr 12.

Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Viale Europa 11, 25123, Brescia, Italy; Asst Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy.

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http://dx.doi.org/10.1016/j.imlet.2020.04.001DOI Listing
April 2020

Novel and emerging treatments for Aicardi-Goutières syndrome.

Expert Rev Clin Immunol 2020 02 6;16(2):189-198. Epub 2020 Jan 6.

Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1080/1744666X.2019.1707663DOI Listing
February 2020

Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency.

Immunol Lett 2019 10 20;214:52-54. Epub 2019 Aug 20.

Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia; Viale Europa 11, 25123, Brescia, Italy; Asst Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.imlet.2019.08.003DOI Listing
October 2019

The hidden hypothesis: A disseminated tuberculosis case.

Int J Infect Dis 2019 Aug 28;85:88-91. Epub 2019 May 28.

Division of Cardiology, Ospedale San Gerardo ASST Monza, Via Pergolesi 33, Monza, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ijid.2019.05.023DOI Listing
August 2019

Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature.

J Allergy Clin Immunol Pract 2019 Sep - Oct;7(7):2476-2478.e5. Epub 2019 Apr 8.

Department of Pediatrics, Fondazione MBBM, University of Milano-Bicocca, Monza, Italy.

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http://dx.doi.org/10.1016/j.jaip.2019.04.001DOI Listing
October 2020

Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings.

Orphanet J Rare Dis 2019 02 28;14(1):61. Epub 2019 Feb 28.

Clinical and Experimental Sciences Department, University of Brescia, c/o ASST Spedali Civili, 25123, Brescia, Italy.

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http://dx.doi.org/10.1186/s13023-019-1030-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396443PMC
February 2019

Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.

J Allergy Clin Immunol Pract 2019 May - Jun;7(5):1568-1577. Epub 2019 Feb 2.

Department of Pediatrics, Institute of Molecular Medicine "Angelo Nocivelli," University of Brescia, Asst Spedali Civili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, Institute of Molecular Medicine "Angelo Nocivelli," University of Brescia, Asst Spedali Civili of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1016/j.jaip.2019.01.045DOI Listing
August 2020

A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency.

Pediatr Allergy Immunol 2018 11 28;29(7):776-781. Epub 2018 Sep 28.

Department of Pathology, Institute for Molecular Medicine A. Nocivelli, Laboratory of Genetic Disorders of Childhood, University of Brescia, Brescia, Italy.

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http://doi.wiley.com/10.1111/pai.12968
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http://dx.doi.org/10.1111/pai.12968DOI Listing
November 2018

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

Clin Immunol 2018 06 13;191:75-80. Epub 2018 Mar 13.

Clinica Pediatrica and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili Hospital, Brescia, Italy; Cytogenetic and Medical Genetics Unit and "A. Nocivelli" Institute for Molecular Medicine, Spedali Civili Hospital, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2018.03.005DOI Listing
June 2018

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

Clin Immunol 2018 05 21;190:11-14. Epub 2018 Feb 21.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1016/j.clim.2018.02.008DOI Listing
May 2018

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

Clin Immunol 2018 03 21;188:20-22. Epub 2017 Nov 21.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1016/j.clim.2017.11.008DOI Listing
March 2018

How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome.

Blood 2017 12 24;130(23):2491-2498. Epub 2017 Oct 24.

Service d'Hémato-Oncologie Pédiatrique Registre des neutropénies congénitales, Hôpital Trousseau, Assistance Publique Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1182/blood-2017-02-708552DOI Listing
December 2017

Perinatally HIV-Infected Youths After Transition from Pediatric to Adult Care, a Single-Center Experience from Northern Italy.

AIDS Res Hum Retroviruses 2018 03 17;34(3):241-243. Epub 2017 Nov 17.

1 University Department of Infectious and Tropical Diseases, University of Brescia and Spedali Civili General Hospital , Brescia, Italy .

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http://dx.doi.org/10.1089/AID.2017.0120DOI Listing
March 2018

Signal transducer and activator of transcription gain-of-function primary immunodeficiency/immunodysregulation disorders.

Curr Opin Pediatr 2017 Dec;29(6):711-717

Dipartimento di Scienze Cliniche e Sperimentali, Università degli Studi di Brescia, Istituto di Medicina Molecolare 'Angelo Nocivelli', Brescia, Italia.

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http://dx.doi.org/10.1097/MOP.0000000000000551DOI Listing
December 2017

Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency.

J Clin Immunol 2017 Oct 16;37(7):701-706. Epub 2017 Aug 16.

U.O. Oncoematologia pediatrica e Trapianto di Midollo osseo, Asst Spedali Civili, Brescia, Italy.

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http://link.springer.com/10.1007/s10875-017-0430-6
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http://dx.doi.org/10.1007/s10875-017-0430-6DOI Listing
October 2017

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

J Allergy Clin Immunol 2017 Aug 6;140(2):553-564.e4. Epub 2017 Jan 6.

Institute of Molecular Medicine "Angelo Nocivelli," University of Brescia, Brescia, Italy; Department of Experimental and Clinical Sciences, University of Brescia, Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.10.051DOI Listing
August 2017

STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases.

J Leukoc Biol 2017 01 1;101(1):29-38. Epub 2016 Nov 1.

Department of Clinical and Experimental Sciences, Institute of Molecular Medicine "Angelo Nocivelli," University of Brescia, Brescia, Italy; and

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http://dx.doi.org/10.1189/jlb.5RI0516-237RRDOI Listing
January 2017

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

J Allergy Clin Immunol 2017 01 16;139(1):349-352.e1. Epub 2016 Jul 16.

Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, University of Brescia, Spedali Civili di Brescia, Italy.

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http://dx.doi.org/10.1016/j.jaci.2016.05.045DOI Listing
January 2017

Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.

Immunol Lett 2016 09 1;177:22-4. Epub 2016 Jul 1.

Department of Pediatrics, University of Brescia, Italy.

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http://dx.doi.org/10.1016/j.imlet.2016.07.001DOI Listing
September 2016

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

J Allergy Clin Immunol 2016 07 11;138(1):229-240.e3. Epub 2016 Feb 11.

Department of Pediatrics, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.10.051DOI Listing
July 2016

Novel STAT1 gain-of-function mutation and suppurative infections.

Pediatr Allergy Immunol 2016 Mar 15;27(2):220-3. Epub 2015 Dec 15.

Department of Translational Medical Sciences, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1111/pai.12496DOI Listing
March 2016

Autosomal recessive agammaglobulinemia: the third case of Igβ deficiency due to a novel non-sense mutation.

J Clin Immunol 2014 May 11;34(4):425-7. Epub 2014 Apr 11.

Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine "A. Nocivelli", University of Brescia, Spedali Civili di Brescia, Brescia, Italy,

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http://dx.doi.org/10.1007/s10875-014-0033-4DOI Listing
May 2014

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

J Allergy Clin Immunol 2014 Jun 4;133(6):1644-50.e4. Epub 2014 Mar 4.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Italy.

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http://dx.doi.org/10.1016/j.jaci.2013.12.1085DOI Listing
June 2014

Primary immunodeficiences--options for the future.

Pediatr Allergy Immunol 2014 Feb;25(1):27-9

Department of Experimental and Clinical Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1111/pai.12192DOI Listing
February 2014

Activin A as a mediator of NK-dendritic cell functional interactions.

J Immunol 2014 Feb 6;192(3):1241-8. Epub 2014 Jan 6.

Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy;

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http://dx.doi.org/10.4049/jimmunol.1301487DOI Listing
February 2014

Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia.

Immunol Lett 2014 Oct 4;161(2):222-5. Epub 2013 Dec 4.

Department of Experimental and Clinical Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, c/o Spedali Civili, 25123 Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.imlet.2013.11.018DOI Listing
October 2014

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.

Orphanet J Rare Dis 2013 Oct 17;8:168. Epub 2013 Oct 17.

Department of Experimental and Clinical Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1186/1750-1172-8-168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3856608PMC
October 2013

Defects of leukocyte migration in primary immunodeficiencies.

Eur J Immunol 2013 Jun;43(6):1436-40

Department of Pediatrics, Institute of Molecular Medicine Angelo Nocivelli, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1002/eji.201243155DOI Listing
June 2013

From bone marrow transplantation to cellular therapies: possible therapeutic strategies in managing autoimmune disorders.

Curr Pharm Des 2012 ;18(35):5776-81

Institute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.2174/138161212803530754DOI Listing
May 2013

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

ScientificWorldJournal 2012 1;2012:960219. Epub 2012 Feb 1.

Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, University of Brescia, piazzale Spedali Civili 1, 25123 Brescia, Italy.

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http://downloads.hindawi.com/journals/tswj/2012/960219.pdf
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http://www.hindawi.com/journals/tswj/2012/960219/
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http://dx.doi.org/10.1100/2012/960219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3289902PMC
July 2012

SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function.

Eur J Immunol 2011 Oct 6;41(10):3075-84. Epub 2011 Sep 6.

Department of Pediatrics, Institute of Molecular Medicine Angelo Nocivelli, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1002/eji.201141721DOI Listing
October 2011

Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients.

FASEB J 2010 May 23;24(5):1365-75. Epub 2009 Dec 23.

Department of Pathology, Division of General Pathology, University of Verona, Strada le Grazie 8, Verona, Italy.

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http://dx.doi.org/10.1096/fj.09-145573DOI Listing
May 2010

Leukocyte trafficking in primary immunodeficiencies.

J Leukoc Biol 2009 Mar 16;85(3):335-43. Epub 2008 Dec 16.

Division of Immunology, Children's Hospital, Harvard Medical School, 1 Blackfan Circle, Boston, MA 02115, USA.

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http://dx.doi.org/10.1189/jlb.0808474DOI Listing
March 2009

Decreased type I interferon receptor-soluble isoform in antiretroviral-treated HIV-positive children.

J Interferon Cytokine Res 2008 Mar;28(3):181-9

Laboratorio di Biotecnologie, Department of Diagnostics, Spedali Civili di Brescia, Italy.

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http://dx.doi.org/10.1089/jir.2007.0091DOI Listing
March 2008

Novel insights from adaptor protein 3 complex deficiency.

J Allergy Clin Immunol 2007 Oct;120(4):735-41; quiz 742-3

Istituto di Medicina Molecolare Angelo Nocivelli and Clinica Pediatrica and Dipartimento di Scienze Biomediche e Biotecnologie, University of Brescia, Brescia, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S00916749070163
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http://dx.doi.org/10.1016/j.jaci.2007.08.039DOI Listing
October 2007

A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1.

Clin Immunol 2007 Nov 6;125(2):131-7. Epub 2007 Sep 6.

Barbara Davis Center for Childhood Diabetes, University of Colorado Health Sciences Center, Box B140 Building M20, 1775 N. Ursula Street, Aurora, CO 80045-6511, USA.

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http://dx.doi.org/10.1016/j.clim.2007.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2080870PMC
November 2007

Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5.

Mol Cell Biol 2007 Oct 16;27(19):6889-902. Epub 2007 Jul 16.

Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1128/MCB.00762-07DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2099216PMC
October 2007

Combined decrease of defined B and T cell subsets in a group of common variable immunodeficiency patients.

Clin Immunol 2006 Nov 7;121(2):203-14. Epub 2006 Sep 7.

Istituto di Medicina Molecolare "Angelo Nocivelli", Clinica Pediatrica, Universita' di Brescia, Spedali Civili, Piazzale Spedali Civili 1, 25123 Brescia, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S152166160600806
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http://dx.doi.org/10.1016/j.clim.2006.07.003DOI Listing
November 2006

Immunodeficiencies with autoimmune consequences.

Adv Immunol 2006 ;89:321-70

Angelo Nocivelli Institute for Molecular Medicine, Department of Pediatrics, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1016/S0065-2776(05)89008-XDOI Listing
April 2009

AIRE deficiency in thymus of 2 patients with Omenn syndrome.

J Clin Invest 2005 Mar;115(3):728-32

1Istituto di Medicina Molecolare Angelo Nocivelli, Clinica Pediatrica, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1172/JCI23087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC546458PMC
March 2005