IN VITRO AND IN VIVO ANIMAL MODELS FOR SOMATIC CELL GENE THERAPY OF X-LINKED IMMUNODEFICIENCY WITH HYPER-IgM

Pubblicazioni Scientifiche

• 1995 AMERICAN JOURNAL OF HUMAN GENETICS

  CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY

• 1994 GENOMICS

  HUMAN CD40L GENE MAPS BETWEEN DXS144E AND DXS300 IN XQ26

• 1994 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AME

  ORGANIZATION OF THE HUMAN CD40L GENE - IMPLICATIONS FOR MOLECULAR DEFECTS IN X-CHROMOSOME-LINKED HYPER-IGM SYNDROME AND PRENATAL-DIAGNOSIS

• 1995 GENOMICS

  THE GENOMIC ORGANIZATION OF THE HUMAN TRANSCRIPTION FACTOR-3 (TFE3) GENE

• 1994 IMMUNOLOGICAL REVIEWS

  DEFECTIVE EXPRESSION OF CD40 LIGAND ON T-CELLS CAUSES X-LINKED IMMUNODEFICIENCY WITH HYPER-IGM (HIGM1)

• 1995 NATURE GENETICS

  X-LINKED THROMBOCYTOPENIA AND WISKOTT-ALDRICH SYNDROME ARE ALLELIC DISEASES WITH MUTATIONS IN THE WASP GENE

• 1994 HUMAN MUTATION

  C TO T MUTATION CAUSING PREMATURE TERMINATION OF CD40 LIGAND AT AMINO-ACID 221 IN A PATIENT AFFECTED BY HYPER IGM SYNDROME

• 1995 JOURNAL OF IMMUNOLOGY

  IMMUNOHISTOLOGIC ANALYSIS OF INEFFECTIVE CD40-CD40 LIGAND INTERACTION IN LYMPHOID-TISSUES FROM PATIENTS WITH X-LINKED IMMUNODEFICIENCY WITH HYPER-IGM - ABORTIVE GERMINAL CENTER CELL REACTION AND SEVERE DEPLETION OF FOLLICULAR DENDRITIC CELLS

• 1994 EUROPEAN JOURNAL OF IMMUNOLOGY

  INEFFECTIVE EXPRESSION OF CD40 LIGAND ON CORD-BLOOD T-CELLS MAY CONTRIBUTE TO POOR IMMUNOGLOBULIN PRODUCTION IN THE NEWBORN