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

Pubblicazioni Scientifiche

• BLOOD

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

• CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY

  Recombination activating gene and its defects

• IMMUNOLOGICAL REVIEWS

  The genetic and biochemical basis of Omenn syndrome

• 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

• MOLECULAR CELL

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

• NATURE GENETICS

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

• PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

  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