Involvement of the thymus and cellular immune system in craniofacial malformation syndromes

Craniofacial structures, the aortic arch, thymus, and parathyroid glands all arise from the embryologic pharyngeal pouches, and DiGeorge and Job craniofacial malformation syndromes have defined immunologic deficiencies. The question addressed by this study is whether patients with other pharyngeal pouch malformations could also have immunologic abnormalities. Twelve patients, 4 female and 8 male, were selected at random from the Tampa Bay Craniofacial Center. Their diagnoses included: cleft lip/cleft palate, hemifacial microsomia/Goldenhar syndrome, Treacher-Collins syndrome, craniofacial hemangiomata, craniosynostosis syndromes, and Tessier 13 cleft. Fresh blood samples were analyzed against age-matched controls for immunoglobin number, using immunoelectrophoresis, T-cell, B-cell, and natural killer cell quantity via Coulter counter and monoclonal antibody labeling, as well as lymphocyte stimulation and response functions with phytohemagglutinin, concanavalin A, pokeweed mitogen, and Staphylococcus aureus mitogens. All patients studied had some abnormality of their immune systems. Seven had specific T-cell abnormalities and three patients had abnormalities in all three categories studied. This indicates that patients with any pharyngeal pouch malformation may have an abnormality of the immune system.