Combined immunodeficiencies alongside syndromic characteristics were associated with pathogenic mutations in DOCK8, STAT3, WAS, ATM, and TBX1, which included an autosomal dominant STAT3 variant (c.1144C>T; p.Arg382Trp) and an X-linked WAS variant (c.271C>T). The gene discussed is TBX1; the disease is Immunodeficiency.