Recombination activating gene and its defects
2001; Lippincott Williams & Wilkins; Volume: 1; Issue: 6 Linguagem: Inglês
10.1097/00130832-200112000-00001
ISSN1528-4050
AutoresAnna Villa, Cristina Sobacchi, Paolo Vezzoni,
Tópico(s)RNA Interference and Gene Delivery
ResumoMutations in recombination activating genes cause a spectrum of severe immunodeficiencies ranging from T-B severe combined immunodeficiency to Omenn syndrome (a particular type of severe combined immunodeficiency presenting a T+ B− profile). Although environmental factors and genetic background could also contribute to the genesis of this pathological condition, a residual recombination activating gene activity allowing for a few recombinational events to occur, is the first determinant of this variability in the clinical picture.
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