Fig. 2.

Impaired rearrangement of the TRAV1-2 locus and reduced T and B cell receptor diversity in patient cells. A FACS plots of a healthy control, index patient, a patient with AT, and a patient with RAG1 deficiency showing the frequency of CD3 + Vα7.2 + cells. B Quantification of the frequency of Va7.2 cells within the CD3⁺ compartment. Chord plot of C T cell receptor β (TRB) repertoire and D IgH repertoire in a healthy control, index patient, a patient with AT, and a patient with RAG1 deficiency. E Shannon diversity index of TRB and IgH in the index patient and a healthy control