A 2013 study on two siblings with homozygous SH2B3 variant D231Profs*38 reported the development of precursor B cell acute lymphoblastic leukemia (ALL) with Hashimoto thyroiditis and suspected autoimmune hepatitis (Perez-Garcia et al., 2013), while a recent case report described a novel clinical syndrome involving myeloproliferative and multiorgan autoimmunity in unrelated patients carrying homozygous SH2B3 variants R148Profs*40 and V402M (Blombery et al., 2022). Here, SH2B3 is linked to Autoimmunity.