HUMAN NUDE/SCID PHENOTYPE

Pubblicazioni Scientifiche

• 2004-05-01 ANNALS OF HUMAN GENETICS

  Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population

• 2001-02-15 BLOOD

  Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation

• 2000-07-01 CLINICAL AND EXPERIMENTAL IMMUNOLOGY

  Clustering of distinct autoimmune diseases associated with functional abnormalities of T cell survival in children

• 2001-01-01 CLINICAL AND EXPERIMENTAL IMMUNOLOGY

  Defective surface expression of attractin on T cells in patients with common variable immunodeficiency (CVID)

• 2000-11-01 CLINICAL ENDOCRINOLOGY

  Simultaneous peripubertal onset of multireactive autoimmune diseases with an unusual long-lasting remission of type 1 diabetes mellitus

• 2001-03-01 DIABETES

  Defective function of Fas in patients with type 1 diabetes associated with other autoimmune diseases

• 2001-08-01 JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

  Abnormal GH receptor signaling in children with idiopathic short stature

• 2002-04-01 JOURNAL OF HEMATOTHERAPY & STEM CELL RESEARCH

  A lesson for unraveling complex aspects of novel immunodeficiencies from the human equivalent of the nude/SCID phenotype

• 2000-02-01 NEUROPEDIATRICS

  Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder

• 2000-10-01 NEUROPEDIATRICS

  Brain migration disorder and T-cell activation deficiency associated with abnormal signaling through TCR/CD3 complex and hyperactivity of Fyn tyrosine kinase