HUMAN NUDE/SCID PHENOTYPE

Pubblicazioni Scientifiche

• ANNALS OF HUMAN GENETICS

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

• BLOOD

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

• CLINICAL AND EXPERIMENTAL IMMUNOLOGY

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

• CLINICAL AND EXPERIMENTAL IMMUNOLOGY

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

• CLINICAL ENDOCRINOLOGY

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

• DIABETES

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

• JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

  Abnormal GH receptor signaling in children with idiopathic short stature

• JOURNAL OF HEMATOTHERAPY & STEM CELL RESEARCH

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

• NEUROPEDIATRICS

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

• NEUROPEDIATRICS

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