S Giliani

Summary

Affiliation: University of Brescia
Country: Italy

Publications

  1. ncbi Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia
    Lucia D Notarangelo
    Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia, Spedali Civili, 25123 Brescia, Italy
    Blood 99:2268-9. 2002
  2. ncbi Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis
    S Giliani
    Institute of Chemistry, Department of Paediatrics, University of Brescia, Italy
    Prenat Diagn 19:36-40. 1999
  3. ncbi Omenn syndrome in an infant with IL7RA gene mutation
    Silvia Giliani
    Department of Pediatrics and Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Spedali Civili, 25123 Brescia, Italy
    J Pediatr 148:272-4. 2006
  4. ncbi Cytokine-mediated signalling and early defects in lymphoid development
    Silvia Giliani
    Angelo Nocivelli Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Brescia, Italy
    Curr Opin Allergy Clin Immunol 5:519-24. 2005
  5. ncbi Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients
    Silvia Giliani
    Angelo Nocivelli Institute of Molecular Medicine, Department of Pediatrics, University of Brescia, Italy
    Immunol Rev 203:110-26. 2005
  6. ncbi Prenatal diagnosis of JAK3 deficient SCID
    R F Schumacher
    Department of Paediatrics, University of Brescia, Brescia, Italy
    Prenat Diagn 19:653-6. 1999
  7. ncbi Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome
    F Facchetti
    Department of Pathology, University of Brescia, Italy
    J Pathol 185:99-107. 1998
  8. ncbi Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency
    G Tampella
    Department of Pediatrics, Institute of Molecular Medicine A Nocivelli, University of Brescia, Brescia, Italy
    J Investig Allergol Clin Immunol 21:348-53. 2011
  9. ncbi Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism
    R F Schumacher
    Clinica Pediatrica dell Università degli Studi di Brescia and Istituto di Medicina Molecolare Angelo Nocivelli, Italy
    Hum Genet 106:73-9. 2000
  10. ncbi Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model
    L D Notarangelo
    Istituto di Medicina Molecolare Angelo Nocivelli, Clinica Pediatrica, Universita di Brescia, Italy
    Immunol Rev 178:39-48. 2000

Collaborators

Detail Information

Publications24

  1. ncbi Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia
    Lucia D Notarangelo
    Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia, Spedali Civili, 25123 Brescia, Italy
    Blood 99:2268-9. 2002
    ..This observation broadens the spectrum of clinical phenotypes associated with WASP gene defects, and it indicates the need for molecular analysis in males with reduced platelet volume, regardless of the platelet number...
  2. ncbi Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis
    S Giliani
    Institute of Chemistry, Department of Paediatrics, University of Brescia, Italy
    Prenat Diagn 19:36-40. 1999
    ....
  3. ncbi Omenn syndrome in an infant with IL7RA gene mutation
    Silvia Giliani
    Department of Pediatrics and Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Spedali Civili, 25123 Brescia, Italy
    J Pediatr 148:272-4. 2006
    ..Most cases are due to mutations in the RAG genes. We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition...
  4. ncbi Cytokine-mediated signalling and early defects in lymphoid development
    Silvia Giliani
    Angelo Nocivelli Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Brescia, Italy
    Curr Opin Allergy Clin Immunol 5:519-24. 2005
    ..In particular, the role of cytokines and cytokine-mediated signalling in human T-cell development is analysed in detail, and currently available forms of treatment including experimental trials are described...
  5. ncbi Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients
    Silvia Giliani
    Angelo Nocivelli Institute of Molecular Medicine, Department of Pediatrics, University of Brescia, Italy
    Immunol Rev 203:110-26. 2005
    ..We also report on the clinical and immunological features of 16 novel patients with IL-7Ralpha deficiency and discuss the results of hematopoietic stem cell transplantation...
  6. ncbi Prenatal diagnosis of JAK3 deficient SCID
    R F Schumacher
    Department of Paediatrics, University of Brescia, Brescia, Italy
    Prenat Diagn 19:653-6. 1999
    ..The described method for first-trimester prenatal diagnosis of autosomal recessive T-B+SCID provides a valid tool to aid in genetic counselling and possibly prenatal therapy in this disease...
  7. ncbi Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome
    F Facchetti
    Department of Pathology, University of Brescia, Italy
    J Pathol 185:99-107. 1998
    ..As a whole, the degree of impairment of WASP protein expression in WAS/XLT seems to correlate with anomalies of cytoskeletal organization, strongly supporting a role for WASP in the regulation of F-actin polymerization...
  8. ncbi Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency
    G Tampella
    Department of Pediatrics, Institute of Molecular Medicine A Nocivelli, University of Brescia, Brescia, Italy
    J Investig Allergol Clin Immunol 21:348-53. 2011
    ..The aim of this study was to evaluate CARMA1/CARD11 and Bob1 as candidate genes for the pathogenesis of CVID in a cohort of 66 patients with the disease...
  9. ncbi Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism
    R F Schumacher
    Clinica Pediatrica dell Università degli Studi di Brescia and Istituto di Medicina Molecolare Angelo Nocivelli, Italy
    Hum Genet 106:73-9. 2000
    ..In this cohort of patients, 15 independent JAK3 gene mutations have been identified, including 7 that have not been described previously. Mutation analysis information was used for genetic counseling and prenatal diagnosis...
  10. ncbi Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model
    L D Notarangelo
    Istituto di Medicina Molecolare Angelo Nocivelli, Clinica Pediatrica, Universita di Brescia, Italy
    Immunol Rev 178:39-48. 2000
    ..At the same time, characterization of the defects has been instrumental in the development of novel therapeutic approaches, from in utero hematopoietic stem cell transplantation to gene therapy...
  11. ncbi Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model
    L D Notarangelo
    Istituto di Medicina Molecolare Angelo Nocivelli, Clinica Pediatrica Università di Brescia, Italy
    Immunobiology 202:106-19. 2000
    ....
  12. ncbi Primary immune deficiencies unravel the molecular basis of immune response
    Luigi D Notarangelo
    Department of Pediatrics and Institute of Molecular Medicine Angelo Nocivelli, University of Brescia, Spedali Civili, 25123 Brescia, Italy
    Rev Clin Exp Hematol 7:84-111. 2003
    ....
  13. pmc Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM
    S Ferrari
    Istituto di Medicina Molecolare Angelo Nocivelli, Clinica Pediatrica, Universita di Brescia, Piazzale Spedali Civili 1, 25123 Brescia, Italy
    Proc Natl Acad Sci U S A 98:12614-9. 2001
    ..These findings show that mutations of the CD40 gene cause an autosomal recessive form of hyper IgM, which is immunologically and clinically undistinguishable from the X-linked form...
  14. ncbi Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?
    F Buzi
    Pediatric Department and Institute of Molecular Medicine A Nocivelli, University of Brescia, 25123 Brescia, Italy
    J Clin Endocrinol Metab 88:3146-8. 2003
    ....
  15. ncbi Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience
    E Mazzolari
    Department of Pediatrics, Children s Hospital, University of Brescia, Italy
    Bone Marrow Transplant 36:107-14. 2005
    ..Early recognition of OS, rapid initiation of adequate supportive treatment and HSCT lead to improved outcome for this otherwise fatal disease, regardless of the origin and matching of hematopoietic stem cells...
  16. pmc X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells
    S Parolini
    Dipartimento di Scienze Biomediche e Biotecnologie, Universita di Brescia, 25123 Brescia, Italy
    J Exp Med 192:337-46. 2000
    ..As expected, in XLP-NK cells, 2B4 did not associate with SH2D1A, whereas similar to 2B4 molecules isolated from normal NK cells, it did associate with Src homology 2 domain-containing phosphatase 1...
  17. doi Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiency
    Evelina Mazzolari
    Divisione di Emato Oncologia Pediatrica, Ospedale dei Bambini, Spedali Civili, Brescia, Italy
    Immunol Res 44:4-17. 2009
    ..Persistence of a low number of circulating naive T cells and long-term requirement for intravenous immunoglobulin were associated with a higher incidence of clinical events...
  18. ncbi Reconstitution of T-cell compartment after in utero stem cell transplantation: analysis of T-cell repertoire and thymic output
    Silvia Pirovano
    Terzo Servizio Analisi, Spedali Civili of Brescia and Department of Chemistry, University of Brescia, Italy
    Haematologica 89:450-61. 2004
    ..In utero transplantation of hematopoietic stem cells allows immune reconstitution of fetuses with severe combined immunodeficiency. The objective of this work was to study the quality of T-cell reconstitution following this procedure...
  19. ncbi Immunodeficiencies due to defects of class-switch recombination
    Luigi D Notarangelo
    Department of Pediatrics, Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy
    Immunol Res 38:68-77. 2007
    ..At the same time, recognition that defective maturation of antibody responses may result from different mechanisms, has been essential to better define prognosis and to tailor more appropriate and specific forms of treatment...
  20. ncbi Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency
    Annarosa Soresina
    Istituto di Medicina Molecolare Angelo Nocivelli Clinica Pediatrica, Universita di Brescia, Spedali Civili, 25123 Brescia, Italy
    Eur J Pediatr 161:656-9. 2002
    ..Distinguishing between these two diseases is essential since they have different prognosis, treatment and genetic counselling...
  21. ncbi Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation
    YinZhu Jin
    Department of Pediatrics, University of Washington, Seattle, WA 98109, USA
    Blood 104:4010-9. 2004
    ..By analyzing a large number of patients with WAS/XLT at the molecular level we identified 5 mutational hotspots in the WASP gene and have been able to establish a strong association between genotype and phenotype...
  22. ncbi Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect
    Angela Gismondi
    University La Sapienza, Viale Regina Elena, 324, 00161 Rome, Italy
    Blood 104:436-43. 2004
    ..We also found that WASp undergoes tyrosine phosphorylation upon CD16 or beta2-integrin engagement on NK cells...
  23. pmc Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations
    Ponpan Matangkasombut
    Division of Immunology, Children s Hospital Boston, Harvard Medical School, Boston, MA, USA
    Blood 111:271-4. 2008
    ..These findings suggest that lack of this important immunoregulatory cell population may contribute to the pathophysiology of Omenn syndrome...
  24. ncbi Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency
    Caroline Laffort
    Unite d immunologie, d Hématologie, et de Rhumatologie Pédiatrique, Paris, France
    Lancet 363:2051-4. 2004
    ..That genetic causes are the only predisposing factor to be identified for severe combined immune deficiency, suggests that natural-killer cells or gammac/JAK-3-dependent signalling in keratinocytes could have a role in anti-HPV immunity...