Gene ther­a­py for 'bub­ble boy dis­ease' sets stage for cure

In­fants with a rare, life-threat­en­ing ge­net­ic dis­or­der that ren­ders their im­mune sys­tem ob­so­lete may have a new lease on life, af­ter eight pa­tients with “bub­ble boy dis­ease” saw their body’s de­fense sys­tem re­stored by a gene ther­a­py de­vel­oped by sci­en­tists at the Na­tion­al In­sti­tutes of Health and St. Jude Chil­dren’s Re­search Hos­pi­tal in Mem­phis, Ten­nessee.

The con­di­tion — called X-linked se­vere com­bined im­mun­od­e­fi­cien­cy (SCID) — al­most ex­clu­sive­ly oc­curs in boys and is caused by mu­ta­tions in the IL2RG gene, which is in charge of mak­ing sure a pro­tein that is vi­tal for the growth and mat­u­ra­tion of de­vel­op­ing im­mune cells called lym­pho­cytes is pro­duced. With­out func­tion­ing lym­pho­cytes, which de­fend the body against pathogens, make an­ti­bod­ies, and help reg­u­late the im­mune sys­tem, the small­est in­fec­tions such as the com­mon cold can be fa­tal.

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