Daniele Moratto

Daniele Moratto

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Daniele Moratto

Daniele Moratto

Publications by authors named "Daniele Moratto"

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Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity.

Clin Immunol 2019 Aug 28;205:153-155. Epub 2018 Nov 28.

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.clim.2018.11.014DOI Listing
August 2019

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

Haematologica 2019 Jul 9;104(7):e322-e325. Epub 2019 May 9.

Clinica Pediatrica and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili Hospital, Brescia

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http://www.haematologica.org/lookup/doi/10.3324/haematol.201
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http://dx.doi.org/10.3324/haematol.2018.202374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6601097PMC
July 2019

A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.

J Allergy Clin Immunol 2019 Apr 14;143(4):1649-1653.e3. Epub 2019 Jan 14.

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

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http://dx.doi.org/10.1016/j.jaci.2019.01.001DOI Listing
April 2019

A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1).

Clin Immunol 2019 Mar 9;200:31-34. Epub 2019 Jan 9.

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.2019.01.003DOI Listing
March 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
February 2019

A de novo monoallelic CTLA-4 deletion causing pediatric onset CVID with recurrent autoimmune cytopenias and severe enteropathy.

Clin Immunol 2018 12 13;197:186-188. Epub 2018 Oct 13.

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.2018.10.007DOI Listing
December 2018

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

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56 NKG2A Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Front Immunol 2017 10;8:1244. Epub 2017 Oct 10.

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

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http://journal.frontiersin.org/article/10.3389/fimmu.2017.01
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http://dx.doi.org/10.3389/fimmu.2017.01244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641412PMC
October 2017

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56 NKG2A Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Front Immunol 2017 17;8:798. Epub 2017 Jul 17.

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

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http://journal.frontiersin.org/article/10.3389/fimmu.2017.00
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http://dx.doi.org/10.3389/fimmu.2017.00798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511964PMC
July 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

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

Clin Immunol 2016 12 5;173:181-183. Epub 2016 Nov 5.

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

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http://dx.doi.org/10.1016/j.clim.2016.10.019DOI Listing
December 2016

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

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

Clin Immunol 2016 Feb 11;163:10-3. Epub 2015 Dec 11.

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

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https://linkinghub.elsevier.com/retrieve/pii/S15216616153007
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http://dx.doi.org/10.1016/j.clim.2015.12.006DOI Listing
February 2016

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

J Clin Immunol 2016 Jan 27;36(1):1-3. Epub 2015 Nov 27.

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

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http://dx.doi.org/10.1007/s10875-015-0217-6DOI Listing
January 2016

Proteus syndrome: evaluation of the immunological profile.

Orphanet J Rare Dis 2016 Jan 13;11. Epub 2016 Jan 13.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Piazzale Spedali Civili 1, Brescia, 25123, Italy.

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http://dx.doi.org/10.1186/s13023-015-0381-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711050PMC
January 2016

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

J Allergy Clin Immunol 2015 Jun 17;135(6):1641-3. Epub 2015 Jan 17.

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

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http://dx.doi.org/10.1016/j.jaci.2014.11.038DOI Listing
June 2015

Characterization of the immune cell repertoire in the normal fallopian tube.

Int J Gynecol Pathol 2014 Nov;33(6):581-91

*Department of Molecular and Translational Medicine (L.A., S.L., F.F., W.V.) ‡Laboratory of Genetic Disorders of Childhood, "A Nocivelli" Institute for Molecular Medicine, Department of Pathology, Spedali Civili of Brescia, Brescia, Italy (D.M.) †Department of Pathology (L.A., I.-M.S., R.J.K.), Johns Hopkins University, Baltimore, Maryland ∥Department of Pathology and Immunology (W.V.), Washington University School of Medicine, Saint Louis, Missouri.

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https://insights.ovid.com/crossref?an=00004347-201411000-000
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http://dx.doi.org/10.1097/PGP.0000000000000095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617751PMC
November 2014

Profound T-cell defects in Dubowitz syndrome.

Pediatr Allergy Immunol 2014 Aug 5;25(5):511-3. Epub 2014 Jun 5.

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/10.1111/pai.12238DOI Listing
August 2014

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

Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome.

J Allergy Clin Immunol 2014 Mar 8;133(3):896-9.e4. Epub 2013 Nov 8.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2013.08.050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943658PMC
March 2014

Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.

Am J Med Genet A 2013 Oct 15;161A(10):2614-9. Epub 2013 Aug 15.

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

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http://dx.doi.org/10.1002/ajmg.a.36115DOI Listing
October 2013

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

Somatic mosaicism in the Wiskott-Aldrich syndrome: molecular and functional characterization of genotypic revertants.

Clin Immunol 2010 Apr 2;135(1):72-83. Epub 2010 Feb 2.

Centre for Stem Cell Research, Brown Foundation Institute of Molecular Medicine, University of Texas Health Science Center, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.clim.2009.12.011DOI Listing
April 2010

The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment.

Expert Rev Clin Immunol 2007 Sep;3(5):813-24

University of Brescia, Angelo Nocivelli Institute of Molecular Medicine, c/o Spedali Civili, Piazzale Spedali Civili 1, 25123 Brescia, Italy.

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http://dx.doi.org/10.1586/1744666X.3.5.813DOI Listing
September 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

Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.

J Pediatr 2003 Feb;142(2):194-6

Department of Pediatrics, The Medical School, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1067/mpd.2003.41DOI Listing
February 2003