Genomes and Genes
Affiliation: University of Brescia
- Missense mutations of the WASP gene cause intermittent X-linked thrombocytopeniaLucia 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...
- Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysisS Giliani
Institute of Chemistry, Department of Paediatrics, University of Brescia, Italy
Prenat Diagn 19:36-40. 1999....
- Omenn syndrome in an infant with IL7RA gene mutationSilvia 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...
- Cytokine-mediated signalling and early defects in lymphoid developmentSilvia 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...
- Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patientsSilvia 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...
- Prenatal diagnosis of JAK3 deficient SCIDR 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...
- Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndromeF 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...
- Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiencyG 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...
- Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphismR 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...
- Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a modelL 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...
- Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a modelL D Notarangelo
Istituto di Medicina Molecolare Angelo Nocivelli, Clinica Pediatrica Università di Brescia, Italy
Immunobiology 202:106-19. 2000....
- Primary immune deficiencies unravel the molecular basis of immune responseLuigi 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....
- Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgMS 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...
- 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....
- Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experienceE 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...
- 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 cellsS 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...
- Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiencyEvelina 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...
- Reconstitution of T-cell compartment after in utero stem cell transplantation: analysis of T-cell repertoire and thymic outputSilvia 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...
- Immunodeficiencies due to defects of class-switch recombinationLuigi 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...
- Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiencyAnnarosa 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...
- Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlationYinZhu 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...
- Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defectAngela 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...
- Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutationsPonpan 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...
- 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 deficiencyCaroline 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...