Fausto Cossu

Summary

Affiliation: University of Cagliari
Location: Cagliari, Italy
Summary:
M.D. Pediatric HSCT Unit, 2^ Pediatric Clinic of University, Ospedale Microcitemico, Via Jenner s/n, 09121 Cagliari, Sardinia, Italy
Immunology, Genetics

Publications

  1. ncbi Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III region
    F Cucca
    Divisione Pediatrica, Ospedale S Michele, Cagliari, Italy
    Clin Exp Immunol 111:76-80. 1998
  2. ncbi Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
    Cristina 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
  3. ncbi Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study
    Gigliola Di Matteo
    Department of Public Health and Cellular Biology, Tor Vergata University, Rome, Italy
    Mol Immunol 46:1935-41. 2009
  4. ncbi Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study
    Baldassarre Martire
    Dipartimento di Biomedicina dell Eta Evolutiva, Universita di Bari, Italy
    Clin Immunol 126:155-64. 2008
  5. ncbi Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia
    S Ferrari
    Medical Genetics Unit and CRBa, S Orsola Malpighi University Hospital, Via Massarenti 9, 40138 Bologna, Italy
    Genes Immun 8:325-33. 2007
  6. ncbi A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome
    Fausto Cossu
    Bone Marrow Transplant Unit, Ospedale Microcitemico, Cagliari, Italy
    Br J Haematol 119:765-8. 2002
  7. ncbi Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis
    Marcello Arca
    Department of Medical Therapy, University of Rome La Sapienza, Italy
    Lancet 359:841-7. 2002
  8. ncbi Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein
    C 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
  9. ncbi Genetic linkage of hyper-IgE syndrome to chromosome 4
    B 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
  10. ncbi Genetics of SCID
    Fausto 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

Collaborators

Detail Information

Publications10

  1. ncbi Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III region
    F 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...
  2. ncbi Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
    Cristina 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...
  3. ncbi Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study
    Gigliola 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...
  4. ncbi Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study
    Baldassarre 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...
  5. ncbi Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia
    S 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...
  6. ncbi A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome
    Fausto 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...
  7. ncbi Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis
    Marcello 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...
  8. ncbi Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein
    C 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...
  9. ncbi Genetic linkage of hyper-IgE syndrome to chromosome 4
    B 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...
  10. ncbi Genetics of SCID
    Fausto 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
    ....