Table 1

Clinical presentations in the 184 [F508del]+[R117H] compound heterozygous individuals, according to the poly(T) variant

	NBS children (n = 72)		Non-NBS individuals (n = 112)
	Asymptomatic (No. of individuals)	CF/CFTR-RD symptoms (No. of individuals)	Asymptomatic (No. of individuals)	CF/CFTR-RD symptoms (No. of individuals)
R117H;T7 (n = 166)	47	14:	7	98:
		– 1 classical CF		– 1 severe DB +CRS +CBAVD
		– 3 moderate pulmonary + nasopharyngeal		– 1 severe DB+CRS
		– 7 moderate pulmonary		– 2 DB+CBAVD
		– 3 nasopharyngeal		– 2 DB
				– 7 moderate pulmonary+CRS+CBAVD
				– 9 moderate pulmonary+CBAVD
				– 4 moderate pulmonary+CRS
				– 1 moderate pulmonary+pancreatic+CBAVD
				– 7 moderate pulmonary
				– 6 CRS+CBAVD
				– 3 pancreatic+CBAVD
				– 1 CRS
				– 2 pancreatic
				– 52 isolated CBAVD
R117H;T5 (n = 7)	2	1:	1	3:
		– 1 nasopharyngeal		– 1 severe DB+CRS
				– 1 moderate pulmonary
				– 1 isolated CBAVD
R117H;T?‡ (n = 11)	6	2:	1	2:
		– 1 moderate pulmonary		– 2 isolated CBAVD
		– 1 pancreatic
Total	55	17	9	103

CBAVD, congenital bilateral absence of vas deferens; CRS, chronic rhinosinusitis; DB, disseminated bronchiectasis; NBS, newborn screened; Non-NBS, non-newborn screened (individuals who were not referred through newborn screening); R117H;T?, cases where the poly(T) variant was not determined or documented.