SCID DUE TO DEFECTS IN V(D)J RECOMBINATION: HUMAN STUDIES AND ANIMAL MODELS

Pubblicazioni Scientifiche

• 2000 IMMUNOLOGICAL REVIEWS

  The genetic and biochemical basis of Omenn syndrome

• 2000 NATURE GENETICS

  Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

• 2001 CURRENT OPINION IN HEMATOLOGY

  Recombinase activating gene enzymes of lymphocytes

• 2000 PRENATAL DIAGNOSIS

  Prenatal diagnosis of RAG-deficient Omenn syndrome

• 2000 MOLECULAR AND CELLULAR BIOLOGY

  Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies

• 2001 Blood

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

• 2001 ADVANCES IN GENETICS INCORPORATING MOLECULAR GENETIC MEDICINE

  Primary immunodeficiency mutation databases

• 1999 MOLECULAR CELL

  The RAG1/RAG2 complex constitutes a 3 ' flap endonuclease: Implications for junctional diversity in V(D)J and transpositional recombination

• 2001 Blood

  Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency

• 2000 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AME

  N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains