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Cleft Palate Craniofac J. 2009 Sep;46(5):477-80. doi: 10.1597/08-169.1. Epub 2009 Feb 20.

Humoral immune deficiency and hemifacial microsomia seen in one family.

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  • 1Harvard Medical School, Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital, Boston, 02129, USA.


We present a patient with hemifacial microsomia and immune deficiency. The patient is a 5-year-old with grade III microtia and Pruzansky type I right mandibular hypoplasia. She developed 25 pulmonary infections in 3 years, required hospitalization every 6 weeks to receive antibiotics, and experienced recurrent herpes stomatitis and esophagitis, staphylococcal bacteremia, urinary tract, sinus, and ear infections. She had low total IgG, IgG1, IgG2, IgA, and anti-pneumococcal antibody levels. She was unable to maintain protective pneumococcal titers following vaccination. The patient's 7-year-old sister also suffered from recurrent infections, had a left facial skin tag, and a left arachnoid cyst. We conclude that immune deficiency can occur in association with hemifacial microsomia.

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