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Humoral immune deficiency and hemifacial microsomia seen in one family

Zamaneh Mikhak1, John B Mulliken, John Lee

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

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|November 26, 2009
PubMed

Insights

This study highlights a rare association between hemifacial microsomia and severe immune deficiency in a pediatric patient. Recurrent infections and low immunoglobulin levels indicate a significant immunodeficiency linked to this congenital condition.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Hemifacial microsomia (HFM) is a congenital condition affecting facial development.
  • Immune deficiencies can manifest with recurrent infections and low antibody levels.

Observation:

  • A 5-year-old female with Grade III microtia and Pruzansky type I right mandibular hypoplasia presented with severe, recurrent infections.
  • The patient experienced 25 pulmonary infections in 3 years, frequent hospitalizations, and various other infections, including staphylococcal bacteremia.

Findings:

  • Laboratory results revealed significantly low levels of total IgG, IgG1, IgG2, and IgA.
  • The patient exhibited an inability to maintain protective anti-pneumococcal antibody titers post-vaccination.
  • Her sister also had recurrent infections and distinct congenital anomalies.

Implications:

  • This case suggests a potential link between hemifacial microsomia and primary immune deficiency.
  • Further research is warranted to explore the genetic and molecular mechanisms underlying this association.
  • Early identification and management of immune dysfunction are crucial for patients with HFM.

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