Humoral immune deficiency and hemifacial microsomia seen in one family

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


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.

Publication types

  • Case Reports

MeSH terms

  • Agammaglobulinemia / genetics*
  • Antibodies, Bacterial / analysis
  • Child
  • Child, Preschool
  • Facial Asymmetry / genetics*
  • Female
  • Humans
  • IgA Deficiency / genetics
  • IgG Deficiency / genetics
  • Immunoglobulin G / analysis
  • Pneumococcal Vaccines / administration & dosage
  • Pneumonia, Pneumococcal / immunology
  • Streptococcus pneumoniae / immunology


  • Antibodies, Bacterial
  • Immunoglobulin G
  • Pneumococcal Vaccines