Omenn syndrome in an infant with IL7RA gene mutation

This publication has 10 references indexed in Scilit:

• Omenn syndrome due to ARTEMIS mutations
  Blood, 2005
• AIRE deficiency in thymus of 2 patients with Omenn syndrome
  Journal of Clinical Investigation, 2005
• Interleukin‐7 receptor α (IL‐7Rα) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients
  Immunological Reviews, 2005
• Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis
  Immunology Letters, 2002
• Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B–severe combined immune deficiency or Omenn syndrome
  Blood, 2001
• V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations
  Blood, 2001
• Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders
  Clinical and Experimental Immunology, 2000
• T-Cell Receptor Analysis in Omenn’s Syndrome: Evidence for Defects in Gene Rearrangement and Assembly
  Blood, 1999
• Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome.
  Journal of Clinical Investigation, 1998
• Partial V(D)J Recombination Activity Leads to Omenn Syndrome
  Cell, 1998