Figure 2.

Immunological and genetic protocol in positive cases. ¹Flow cytometry protocols are shown in Supplementary Material S5; ²Lymphopenia and SCID criteria are shown in Supplementary Material S2; ³AFP values are not reliable before 12 months of age; therefore, AFP was only studied in patients older than one year lacking an alternative diagnosis; ⁴The list of 323 PID genes is shown in Supplementary Material S3. AFP, alpha-fetoprotein; ATM, ataxia telangiectasia; B, B-cells; CMV, cytomegalovirus; Ig, immunoglobulin; NK, natural killer cells; PID, Primary immunodeficiency; SCID, severe combined immunodeficiency; T, T-cells; TCR, T-cell receptor; TRECs, T-cell receptor excision circles.