CMC in such patients may be part of a complex clinical phenotype exemplified by a dominant-negative STAT3 deficiency, interleukin (IL)-12Rβ1 and IL-12p40 deficiencies, and autoimmune polyendocrine syndrome type 1 (APS-1) (57, 88–90). The gene discussed is IL12RB1; the disease is autoimmune polyendocrine syndrome type 1.