Mutations in CHD7 in patients with CHARGE syndrome cause T–B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

More than 11 genetic causes of severe combined immunodeficiency (SCID) have been identified, affecting development and/or function of T lymphocytes, and sometimes B lymphocytes and natural killer (NK) cells. Deletion of 22q11.2 is associated with immunodeficiency, although less than 1% of cases are...

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מידע ביבליוגרפי
Main Authors: Gennery, A R, Slatter, M A, Rice, J, Hoefsloot, L H, Barge, D, McLean-Tooke, A, Montgomery, T, Goodship, J A, Burt, A D, Flood, T J, Abinun, M, Cant, A J, Johnson, D
פורמט: Artigo
שפה:Inglês
יצא לאור: Blackwell Science Inc 2008
נושאים:
Translational Studies
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC2432100/
https://ncbi.nlm.nih.gov/pubmed/18505430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1365-2249.2008.03681.x
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