Table 2.

Demographics of infants diagnosed via newborn screening with suspected congenital athymia whose families got involved in the Patient and Public Involvement and Engagement activities

Molecular diagnosis at referral (N)	Median age in days at referral to GOSH (range)	DGS features (N)	Additional genetics* (N)	In vitroT-cell differentiation assay (N)	Treatment (N)	Median age in days at transplantation (range)
DGS 22q11.2DS: 2 CHD7: 2	36 (5 to 78)	4	0	0	TT: 4	101 (57 to 299)
Undefined T−SCID: 5	55 (27 to 346)#	3	4	5	TT: 3 HSCT: 2	195 (105 to 673)

^*genetic analyses beyond routinely available clinical testing; ^#1/5 patients received previous HSCT; CHD7 Chromodomain-helicase-DNA-binding protein 7, DGS DiGeorge Syndrome, DS deletion syndrome, HSCT haematopoietic stem cell transplantation, N number, SCID severe combined immunodeficiency, TT thymus transplantation