Affiliation: University of Cagliari
Location: Cagliari, Italy
M.D. Pediatric HSCT Unit, 2^ Pediatric Clinic of University, Ospedale Microcitemico, Via Jenner s/n, 09121 Cagliari, Sardinia, Italy
- Genetics of SCIDFausto Cossu
Pediatric HSCT Unit, 2 Pediatric Clinic of University, Ospedale Microcitemico, Via Jenner s n, 09121 Cagliari, Sardinia, Italy
Ital J Pediatr 36:76. 2010..This review is the updated, extended and largely modified translation of the article "Cossu F: Le basi genetiche delle SCID", originally published in Italian language in the journal "Prospettive in Pediatria" 2009, 156:228-238...
- Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndromeCristina Woellner
Department of Immunology and Molecular Pathology, Royal Free Hospital, University College London, London NW3 2QG, United Kingdom
J Allergy Clin Immunol 125:424-432.e8. 2010..Recently, HIES has been associated with heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) and severe reductions of T(H)17 cells...
- Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter studyGigliola Di Matteo
Department of Public Health and Cellular Biology, Tor Vergata University, Rome, Italy
Mol Immunol 46:1935-41. 2009..This study further supports the great heterogeneity of the disease and the notion that genetic analysis is a critical step in obtaining a definitive diagnosis for CGD...
- Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter studyBaldassarre Martire
Dipartimento di Biomedicina dell Eta Evolutiva, Universita di Bari, Italy
Clin Immunol 126:155-64. 2008..No evidence justifying long-term prophylaxis with IFNgamma was obtained...
- Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemiaS Ferrari
Medical Genetics Unit and CRBa, S Orsola Malpighi University Hospital, Via Massarenti 9, 40138 Bologna, Italy
Genes Immun 8:325-33. 2007..Two unrelated patients carry compound heterozygous variations in the VpreB1 gene that may be involved in disease ethiology...
- A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndromeFausto Cossu
Bone Marrow Transplant Unit, Ospedale Microcitemico, Cagliari, Italy
Br J Haematol 119:765-8. 2002..This was associated with low toxicity, prompt engraftment with adequate immune reconstitution and full donor haemopoiesis...
- Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysisMarcello Arca
Department of Medical Therapy, University of Rome La Sapienza, Italy
Lancet 359:841-7. 2002..Our aim was to ascertain why ARH is more common on Sardinia than elsewhere...
- Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor proteinC K Garcia
McDermott Center for Human Growth and Development and Department of Internal Medicine, University of Texas Southwestern Medical Center at Dallas, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
Science 292:1394-8. 2001..ARH appears to have a tissue-specific role in LDLR function, as it is required in liver but not in fibroblasts...
- Genetic linkage of hyper-IgE syndrome to chromosome 4B Grimbacher
Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4442, USA
Am J Hum Genet 65:735-44. 1999..Linkage analysis showed a maximum two-point LOD score of 3.61 at recombination fraction of 0 with marker D4S428. Multipoint analysis and simulation testing confirmed that the proximal 4q region contains a disease locus for HIES...
- Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III regionF Cucca
Divisione Pediatrica, Ospedale S Michele, Cagliari, Italy
Clin Exp Immunol 111:76-80. 1998..Our data favour the hypothesis that a class III region allele, present on the common North European but not on the Sardinian HLA-DR3 haplotype, confers susceptibility to IgA-D...