title: Humoral immune deficiency and hemifacial microsomia seen in one family.
abstract: 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.
authors.affiliation: Harvard Medical School, Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital, Boston, 02129, USA. zmikhak@partners.org
authors.forename: Zamaneh
authors.initials: Z
authors.lastname: Mikhak
authors.forename: John B
authors.initials: JB
authors.lastname: Mulliken
authors.forename: John
authors.initials: J
authors.lastname: Lee
authors.forename: Francisco A
authors.initials: FA
authors.lastname: Bonilla
authors.forename: Virginia E
authors.initials: VE
authors.lastname: Kimonis
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics*; D000907:Antibodies, Bacterial / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D005146:Facial Asymmetry / Q000235:genetics*; D005260:Female; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics; D017099:IgG Deficiency / Q000235:genetics; D007074:Immunoglobulin G / Q000032:analysis; D022242:Pneumococcal Vaccines / Q000008:administration & dosage; D011018:Pneumonia, Pneumococcal / Q000276:immunology; D013296:Streptococcus pneumoniae / Q000276:immunology
chemical_list: D000907:Antibodies, Bacterial; D007074:Immunoglobulin G; D022242:Pneumococcal Vaccines