Figure 1
Figure 1. TREC and KREC copy numbers in dried blood spot samples (DBSS) from anonymized Guthrie cards and retested samples and in patients diagnosed with SCID, XLA, AT, NBS, X-HIGM, CVID, or IgAD. Dot size correlates with the amount of ACTB per sample. Dashed lines represent cutoff values for TRECs/μL and KRECs/μL, respectively. Proven molecular defects in the shown SCID patients are depicted as follows: RAG1 indicates recombination activating gene 1; IL2RG, interleukin 2 receptor γ chain (X-SCID); AK2, adenylate kinase 2; IL7RA, interleukin 7 receptor subunit α; JAK3, Janus kinase 3; and uncl., unclassified defect.

TREC and KREC copy numbers in dried blood spot samples (DBSS) from anonymized Guthrie cards and retested samples and in patients diagnosed with SCID, XLA, AT, NBS, X-HIGM, CVID, or IgAD. Dot size correlates with the amount of ACTB per sample. Dashed lines represent cutoff values for TRECs/μL and KRECs/μL, respectively. Proven molecular defects in the shown SCID patients are depicted as follows: RAG1 indicates recombination activating gene 1; IL2RG, interleukin 2 receptor γ chain (X-SCID); AK2, adenylate kinase 2; IL7RA, interleukin 7 receptor subunit α; JAK3, Janus kinase 3; and uncl., unclassified defect.

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