MOLECULAR CHARACTERIZATION OF SEVERE PRIMARY IMMUNODEFICIENCIES. IDENTIFICATION OF MOLECULAR AND CELLULAR DEFECTS, AND PROSPECTIVE THERAPEUTIC IMPLICATIONS

Pubblicazioni Scientifiche

• 1997-01-01 ADVANCES IN GENETICS, VOL 35

  Molecular basis for X-linked immunodeficiencies

• 1995-11-15 BLOOD

  HIGH PREVALENCE OF NONSENSE, FRAME-SHIFT, AND SPLICE-SITE MUTATIONS IN 16 PATIENTS WITH FULL-BLOWN WISKOTT-ALDRICH SYNDROME

• 1996-08-01 BLOOD

  Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene

• 1997-02-01 BLOOD

  Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: A molecular and immunological analysis

• 1997-11-15 BLOOD

  Structural and functional basis for JAK3-deficient severe combined immunodeficiency

• 1996-12-01 IMMUNITY

  Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways

• 1996-11-01 IMMUNOLOGY TODAY

  CD40Lbase: A database of CD40L gene mutations causing X-linked hyper-IgM syndrome

• 1996-06-01 JOURNAL OF EXPERIMENTAL MEDICINE

  In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction