TABLE 2.

Characteristics of children with chronic lung disease who screened positive for E292v mutation

	Patient 5	Patient 6	Patient 7	Patient 8	Patient 9	Patient 10	Patient 11
Race	White	White	White	White	White	Hispanic	White
Age of symptoms	Neonate	Neonate	Neonate	7 yr	5 yr	Neonate	Neonate
Sex	Female	Female	Male	Male	Male	Male	Male
Lung biopsy	Not done	Not done	Not done	IP/PF	Not done	BO/fibrosis	Normal
Current age	NA	11 yr	11 yr	11 yr	9 yr	NA	6 yr
Family history	Yes	No	Yes	Yes	Yes	No	No
Outcome	Died at 11 yr	Alive	Alive	Alive	Alive	Died at 6 mo	Alive
ABCA3 mutations	E292V/c1612-2   A>G/P1301L	E292V/G1302E	E292V/T1114M	E292V/E690K	E292V/E690K	E292V/none   identified	E292V/none   identified

Definition of abbreviations: BO = bronchiolitis obliterans; IP = interstitial pneumonitis; NA = not available; PF = pulmonary fibrosis.