TABLE 1

Included studies on surfactant-processing mutations categorised by study type

	Study type					Total n
	Adult case reports/series	Paediatric case reports/series	Adult paediatric case reports/series	Clinical trial	Cell/mouse model	Total n
SFTPA2	1 [7]	0	0	0	1 [35]	2
*SFTPC*	0	20 [5, 36–54]	1 [55]	0	10 [21, 56–64]	31
*ABCA3*	0	20 [65–84]	2 [10, 85]	0	1 [86]	23
*SFTPC/ABCA3*		2 [87, 88]				2
*HPS1/2/4*	8 [89–96]	1 [13]		2 [97, 98]	4 [99–102]	15
Total	9	43	3	2	16	73

Data are presented as number of studies and their corresponding references.