The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor

Figure 5

Family history with SH2D1A genotype. A full deletion of SH2D1A was detected using a commercial immunodeficiency panel (https://www.invitae.com/en/physician/tests/08100/) in the patient and his mother, while his half brother did not have the deletion. The arrow demarcates the case report patient.