Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Puel A, Ziegler SF, Buckley RH, Leonard WJ. Sadofsky MJ, Hesse JE, McBlane JF, Gellert M.Expression and V(D)J recombination activity of mutated RAG-1 proteins. Complementation of V(D)J Recombination Deficiency in RAG-1−/− B Cells Reveals a Requirement for Novel Elements in the N-Terminus of RAG-1. A basic motif in the N-terminal region of RAG1 enhances V(D)J recombination activity. McMahan CJ, Difilippantonio MJ, Rao N, Spanopoulou E, Schatz DG. RAG-1 mutations that affect the target specificity of V (D) j recombination: a possible direct role of RAG-1 in site recognition.

Sadofsky MJ, Hesse JE, van Gent DC, Gellert M. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency. Kalman L, Lindegren ML, Kobrynski L, Vogt R, Hannon H, Howard JT, et al. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. More specifically, nonsense and frame-shift mutations in the DNA-PKcs encoding gene are responsible for the murine and equine scid conditions, respectively (20. Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, et al. Definition of a large region of RAG1 that is important for coimmunoprecipation of RAG2. The immunophenotypic and immunogenotypic Bcell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins. Noordzij JG, de Bruin-Versteeg S, Verkaik NS, Vossen JM, de Groot R, Bernatowska E, et al. Lack of Nonfunctional B-cell Receptor Rearrangements in a Patient with Normal B Cell Numbers Despite Partial RAG1 Deficiency and Atypical SCID/Omenn Syndrome. Ohm-Laursen L, Nielsen C, Fisker N, Thue Lillevang S, Barington T. The mechanism of V(D)J joining: lessons from molecular, immunological and comparative analyses. HUGU Gene Nomenclature Committee (HGNC) Database.Ħ. Leaky SCID and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation. Giblin W, Chatterji M, Westfield G, Masud T, Theisen B, Cheng H, et al. Role of interleukin-7 in T-cell development from hematopoietic stem cells. Antileukemic Effect of Interleukin-7-Transduced Bone Marrow Stromal Cells in Mice Following Allogeneic T- Cell-Depleted Bone Marrow Transplantation. Li AL, Li C, Feng YG, Yuan GH, Wang GM, Hao J, et al. 1.Fischer A, Hacein-Bey-Abina S, Cavazzana-Calvo M.

What gene is mutated in scid