Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome
CHARGE综合征患者的CHD7基因突变会导致结核病+自然杀伤细胞缺陷+重症联合免疫缺陷,并可能引起类似奥门综合征。
期刊:Clinical and Experimental Immunology
影响因子:3.8
doi:10.1111/j.1365-2249.2008.03681.x
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