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

Pubblicazioni Scientifiche

• ADVANCES IN GENETICS, VOL 43

  Primary immunodeficiency mutation databases

• BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease

• BLOOD

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

• BLOOD

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

• CELL

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

• CELL

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

• CLINICAL AND EXPERIMENTAL IMMUNOLOGY

  X-linked immunodeficiency with hyper-IgM (XHIM)

• CURRENT OPINION IN HEMATOLOGY

  Recombinase activating gene enzymes of lymphocytes

• CURRENT OPINION IN IMMUNOLOGY

  RAG and RAG defects

• HUMAN GENETICS

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

• IMMUNOLOGICAL REVIEWS

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

• JOURNAL OF CLINICAL IMMUNOLOGY

  Omenn syndrome: A disorder of Rag1 and Rag2 genes

• 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

• MOLECULAR AND CELLULAR BIOLOGY

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

• PRENATAL DIAGNOSIS

  Prenatal diagnosis of JAK3 deficient SCID

• PRENATAL DIAGNOSIS

  Prenatal diagnosis of RAG-deficient Omenn syndrome