CHARACTERIZATION OF THE MOLECULAR BASES OF PRIMARY IMMUNODEFICIENCIES DUE TO DEFECTS IN TERMINAL B-CELL DIFFERENTIATION

Pubblicazioni Scientifiche

• 2000 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease

• 2000 JOURNAL OF EXPERIMENTAL MEDICINE

  X-linked lymphoproliferative disease: 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells

• 2001 CURRENT OPINION IN HEMATOLOGY

  Recombinase activating gene enzymes of lymphocytes

• 2000 CELL

  Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)

• 2001 ADVANCES IN GENETICS INCORPORATING MOLECULAR GENETIC MEDICINE

  Primary immunodeficiency mutation databases

• 1998 CELL

  Partial V(D)J recombination activity leads to Omenn syndrome

• 2001 Blood

  V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

• 2000 IMMUNOLOGICAL REVIEWS

  Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model

• 2000 MOLECULAR AND CELLULAR BIOLOGY

  Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: Evidence for interactions between the kinase and pseudokinase domains

• 2000 PRENATAL DIAGNOSIS

  Prenatal diagnosis of RAG-deficient Omenn syndrome

• 1999 JOURNAL OF CLINICAL IMMUNOLOGY

  Omenn syndrome: A disorder of Rag1 and Rag2 genes

• 1999 CURRENT OPINION IN IMMUNOLOGY

  RAG and RAG defects

• 1999 PRENATAL DIAGNOSIS

  Prenatal diagnosis of JAK3 deficient SCID

• 2000 CLINICAL AND EXPERIMENTAL IMMUNOLOGY

  X-linked immunodeficiency with hyper-IgM (XHIM)

• 1999 Blood

  Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome

• 2000 HUMAN GENETICS

  Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism